(used for variant description)
(last modified October 30, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_018121.3 in the FAM178A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering FAM178A transcript NM_018121.3.
(upstream sequence)
g.5002
ca c.-541
. . . . . . g.5062
attgtgtgacacaggaagcccaagtgttggccatcctcaacgaaggcagctgccgggctc c.-481
. . . . . . g.5122
cggtttgcttcagcaaaccctcacccctcgccttcaaccaggcgggtgtcgtcagctgtc c.-421
. . . . . . g.5182
cgccagctgctgcccgcgcctttccgcccccgcgcgccggccaaggccgaggcggccggg c.-361
. . . . . . g.5242
accagaggcgcgcgccctcagtgcatgtgacggggtgggagggggaggtttcttcctccc c.-301
. . . . . . g.5302
ccgtccccaagccccgccttctccagagaggctgcggcttcctattgcgccaccaccgaa c.-241
. . . . . . g.5362
atgaccaccgtgccagccaatcaagacgtgattcatgaagtaagacccgccccttactgg c.-181
. . . . . . g.5422
tccccaggttccttcccgctcacgccggagtcacttccgaagagagaaccgccatgaaga c.-121
. . . . . . g.5482
gagaagggggtgccgcccacctctgctccgacagcctcccggagtcccagcagcaagacg c.-61
. . . . . . g.5542
gcaaccacgcacccaacttctccagccacggctcatgccgccgtcgccagcggcgccgac c.-1
. . . . . . g.5602
ATGACAAGGCGCTGCATGCCCGCTAGGCCAGGTTTCCCCTCATCCCCAGCCCCGGGGTCG c.60
M T R R C M P A R P G F P S S P A P G S p.20
. . . . . . g.5662
TCGCCCCCGCGCTGCCATCTGAGACCCGGTAGTACCGCCCATGCTGCAGCGGGAAAGAGA c.120
S P P R C H L R P G S T A H A A A G K R p.40
. . | 02 . . . . g.8470
ACAGAGAGTCCTGGGGACAG | GAAGCAGTCAATTATAGATTTCTTCAAACCAGCTTCAAAA c.180
T E S P G D R | K Q S I I D F F K P A S K p.60
| 03 . . . . . . g.9057
CAAG | ACAGACACATGTTGGATTCACCACAAAAATCAAACATCAAATATGGAGGAAGTAGA c.240
Q D | R H M L D S P Q K S N I K Y G G S R p.80
. . . . . . g.9117
TTGTCTATCACTGGGACAGAGCAGTTTGAAAGGAAACTATCCTCACCAAAAGAATCTAAA c.300
L S I T G T E Q F E R K L S S P K E S K p.100
. . . . . . g.9177
CCCAAAAGGGTGCCACCAGAAAAGAGCCCTATTATAGAAGCTTTCATGAAAGGTGTTAAA c.360
P K R V P P E K S P I I E A F M K G V K p.120
. . . . . . g.9237
GAGCACCATGAAGATCATGGTATACATGAGTCACGTCGGCCTTGTCTGTCACTAGCCTCC c.420
E H H E D H G I H E S R R P C L S L A S p.140
. . . . . . g.9297
AAATATTTAGCCAAAGGAACAAATATCTATGTTCCTTCTTCATATCACTTGCCAAAGGAG c.480
K Y L A K G T N I Y V P S S Y H L P K E p.160
. . . . . . g.9357
ATGAAGTCACTAAAGAAAAAACATCGATCCCCAGAGAGAAGGAAGTCACTATTCATTCAT c.540
M K S L K K K H R S P E R R K S L F I H p.180
. . . . . . g.9417
GAAAATAATGAGAAGAATGATAGAGATCGAGGCAAAACCAATGCAGACTCCAAAAAGCAG c.600
E N N E K N D R D R G K T N A D S K K Q p.200
. . . . . . g.9477
ACCACAGTGGCAGAAGCTGACATCTTCAATAACAGCTCCAGAAGCCTTAGCAGCAGGAGC c.660
T T V A E A D I F N N S S R S L S S R S p.220
. . . . . . g.9537
AGCCTGTCCAGGCACCACCCGGAAGAAAGCCCACTGGGAGCTAAATTCCAGTTGTCACTA c.720
S L S R H H P E E S P L G A K F Q L S L p.240
. . . . . . g.9597
GCTTCTTACTGCAGAGAACGAGAACTAAAGAGGTTGAGAAAGGAGCAAATGGAGCAGAGA c.780
A S Y C R E R E L K R L R K E Q M E Q R p.260
. . . . . . g.9657
ATCAACTCCGAGAATTCTTTCTCAGAAGCAAGCAGTCTTTCCTTAAAATCTAGTATAGAA c.840
I N S E N S F S E A S S L S L K S S I E p.280
. . . . . . g.9717
AGAAAATATAAACCAAGGCAGGAACAAAGGAAACAGAATGACATCATACCTGGAAAAAAT c.900
R K Y K P R Q E Q R K Q N D I I P G K N p.300
. | 04 . . . . . g.10860
AATCTGTCAAATGTG | GAAAATGGACATCTCTCAAGAAAAAGATCCTCTTCTGATTCATGG c.960
N L S N V | E N G H L S R K R S S S D S W p.320
. | 05 . . . . . g.16453
GAACCTACTTCAG | CAGGCTCTAAGCAGAATAAATTCCCTGAAAAAAGAAAAAGGAACTCT c.1020
E P T S A | G S K Q N K F P E K R K R N S p.340
. . . . . . g.16513
GTGGACTCAGATCTGAAAAGCACAAGAGAATCTATGATACCAAAAGCAAGAGAGTCCTTC c.1080
V D S D L K S T R E S M I P K A R E S F p.360
. . . . . . g.16573
CTTGAGAAGCGTCCTGATGGACCACATCAGAAAGAAAAATTTATAAAACATATTGCACTG c.1140
L E K R P D G P H Q K E K F I K H I A L p.380
. . . . . . g.16633
AAGACACCTGGTGATGTGTTGCGCTTAGAAGATATATCCAAGGAACCGAGTGATGAAACT c.1200
K T P G D V L R L E D I S K E P S D E T p.400
. . . . . . g.16693
GATGGCTCTTCTGCAGGCTTGGCACCTTCAAATTCTGGCAATTCTGGCCACCATTCTACC c.1260
D G S S A G L A P S N S G N S G H H S T p.420
. . . . . . g.16753
AGGAATAGTGACCAAATCCAAGTGGCAGGTACCAAGGAGACTAAGATGCAGAAACCCCAC c.1320
R N S D Q I Q V A G T K E T K M Q K P H p.440
. . . . . . g.16813
TTACCTTTATCTCAGGAAAAGTCTGCAATTAAAAAAGCTAGCAACCTTCAGAAAAATAAA c.1380
L P L S Q E K S A I K K A S N L Q K N K p.460
. . . . . . g.16873
ACCGCTAGCTCCACGACAAAGGAGAAGGAGACAAAACTACCTTTACTTTCCCGTGTTCCA c.1440
T A S S T T K E K E T K L P L L S R V P p.480
. . . . . . g.16933
AGTGCTGGTTCCTCTCTAGTACCATTAAATGCTAAAAATTGTGCTCTTCCAGTTTCTAAA c.1500
S A G S S L V P L N A K N C A L P V S K p.500
. . . . . . g.16993
AAAGATAAAGAGCGTTCCTCATCTAAAGAATGTTCTGGGCATTCTACAGAATCCACCAAA c.1560
K D K E R S S S K E C S G H S T E S T K p.520
. . . . . . g.17053
CACAAGGAACACAAAGCAAAGACTAATAAGGCCGATTCTAATGTATCTTCAGGGAAAATT c.1620
H K E H K A K T N K A D S N V S S G K I p.540
. . . . . . g.17113
TCTGGGGGACCTTTGCGCTCAGAATATGGCACTCCTACAAAGTCTCCCCCTGCTGCTTTG c.1680
S G G P L R S E Y G T P T K S P P A A L p.560
. . . . . . g.17173
GAAGTTGTGCCATGTATCCCAAGCCCTGCAGCACCTTCAGATAAAGCCCCTTCAGAAGGA c.1740
E V V P C I P S P A A P S D K A P S E G p.580
. . . . . . g.17233
GAGAGTTCAGGAAATTCCAATGCAGGTAGCAGTGCACTGAAAAGAAAACTAAGGGGTGAT c.1800
E S S G N S N A G S S A L K R K L R G D p.600
. . . . . . g.17293
TTTGATAGTGATGAAGAAAGTTTAGGTTACAACCTAGACAGTGATGAGGAAGAGGAAACA c.1860
F D S D E E S L G Y N L D S D E E E E T p.620
. . . . . . g.17353
TTAAAGTCACTGGAAGAAATAATGGCTTTGAACTTCAATCAGACTCCTGCAGCTACAGGA c.1920
L K S L E E I M A L N F N Q T P A A T G p.640
. . . . . | 06 . g.18389
AAGCCTCCTGCTCTTTCCAAGGGGCTTAGATCTCAGTCATCAGACTATACA | GGACATGTT c.1980
K P P A L S K G L R S Q S S D Y T | G H V p.660
. . . . . . g.18449
CATCCTGGAACTTACACAAATACCTTAGAACGTCTAGTGAAGGAAATGGAAGACACACAA c.2040
H P G T Y T N T L E R L V K E M E D T Q p.680
| 07 . . . . . . g.21806
AG | GCTAGATGAACTGCAGAAGCAACTACAAGAAGACATAAGGCAAGGCCGAGGCATTAAA c.2100
R | L D E L Q K Q L Q E D I R Q G R G I K p.700
. . . . . . g.21866
TCCCCAATCAGAATTGGAGAAGAAGACAGTACAGATGATGAGGATGGCCTCTTAGAAGAG c.2160
S P I R I G E E D S T D D E D G L L E E p.720
| 08 . . . . . . g.22316
CACAA | GGAATTTCTAAAGAAATTTTCAGTTACAATTGATGCTATTCCTGATCATCATCCA c.2220
H K | E F L K K F S V T I D A I P D H H P p.740
. . . . . . g.22376
GGTGAAGAAATATTTAATTTCCTCAATTCTGGAAAAATTTTCAATCAGTATACCTTGGAT c.2280
G E E I F N F L N S G K I F N Q Y T L D p.760
. . . . . | 09 . g.23414
TTAAGAGACTCTGGTTTTATTGGACAAAGTGCTGTAGAAAAACTTATTCTTAA | ATCGGGA c.2340
L R D S G F I G Q S A V E K L I L K | S G p.780
. . . . . . g.23474
AAAACAGATCAGATTTTTTTGACAACACAAGGTTTCCTTACGTCTGCTTATCACTATGTC c.2400
K T D Q I F L T T Q G F L T S A Y H Y V p.800
. . . | 10 . . . g.29857
CAGTGTCCTGTCCCTGTGTTAAAGTGGCTGTTTCGG | ATGATGTCAGTTCATACAGACTGT c.2460
Q C P V P V L K W L F R | M M S V H T D C p.820
. . . . . | 11 . g.31034
ATTGTGTCAGTGCAGATTTTAAGTACATTGATGGAAATAACAATTAGAAATG | ATACCTTC c.2520
I V S V Q I L S T L M E I T I R N D | T F p.840
. . . . . . g.31094
AGTGACTCACCAGTTTGGCCATGGATCCCATCATTGTCTGATGTAGCAGCTGTGTTTTTC c.2580
S D S P V W P W I P S L S D V A A V F F p.860
. . . . . . g.31154
AATATGGGGATTGATTTTAGATCTTTGTTTCCCCTGGAGAATCTTCAGCCAGACTTTAAT c.2640
N M G I D F R S L F P L E N L Q P D F N p.880
. | 12 . . . . . g.36503
GAAGACTATCTAGT | TTCTGAAACACAGACAACATCAAGGGGGAAAGAAAGTGAAGATTCA c.2700
E D Y L V | S E T Q T T S R G K E S E D S p.900
. . . . . | 13. g.37764
TCTTATAAGCCAATTTTTTCAACACTTCCTGAAACCAACATTTTAAATGTGGTTAAG | TTT c.2760
S Y K P I F S T L P E T N I L N V V K | F p.920
. . . . . . g.37824
CTAGGCTTGTGTACATCTATACATCCAGAAGGTTACCAGGATCGTGAAATAATGTTGCTG c.2820
L G L C T S I H P E G Y Q D R E I M L L p.940
. . . . . . g.37884
ATTTTAATGTTATTTAAAATGAGTTTGGAAAAACAGCTGAAACAGATTCCTTTAGTAGAC c.2880
I L M L F K M S L E K Q L K Q I P L V D p.960
. . . . . | 14 . g.39476
TTTCAAAGCCTCCTGATAAACCTGATGAAAAACATCAGAGATTGGAACACAAAG | GTGCCT c.2940
F Q S L L I N L M K N I R D W N T K | V P p.980
. . . . . . g.39536
GAACTCTGTCTGGGCATAAATGAACTCTCCAGTCATCCCCACAACCTCCTGTGGTTGGTA c.3000
E L C L G I N E L S S H P H N L L W L V p.1000
. . . | 15 . . . g.40219
CAGCTGGTCCCTAATTGGACATCACGTGGAAG | GCAACTGAGACAGTGCCTCAGTCTAGTG c.3060
Q L V P N W T S R G R | Q L R Q C L S L V p.1020
. . . . . . g.40279
ATTATTTCAAAGCTTTTGGATGAGAAACACGAAGATGTTCCTAATGCCAGTAATCTGCAG c.3120
I I S K L L D E K H E D V P N A S N L Q p.1040
| 16 . . . . . . g.42567
| GTATCAGTCCTACATCGCTATCTTGTGCAGATGAAGCCTTCTGATTTGTTAAAGAAAATG c.3180
| V S V L H R Y L V Q M K P S D L L K K M p.1060
. . . . . . g.42627
GTCTTGAAGAAAAAGGCTGAACAACCAGATGGCATTATTGATGACAGTCTTCATTTAGAA c.3240
V L K K K A E Q P D G I I D D S L H L E p.1080
. | 17 . . . . . g.43155
CTTGAAAAGCAG | GCATATTACCTGACCTACATTCTTCTTCATTTAGTCGGTGAAGTTAGT c.3300
L E K Q | A Y Y L T Y I L L H L V G E V S p.1100
. . . | 18 . . . g.48912
TGTTCTCATTCTTTTTCTTCTGGACAACGG | AAACACTTTGTGCTACTCTGTGGGGCTTTG c.3360
C S H S F S S G Q R | K H F V L L C G A L p.1120
. . . . . | 19. g.51862
GAAAAGCATGTTAAATGTGATATTAGGGAAGATGCAAGACTTTTTTACAGAACTAAG | GTG c.3420
E K H V K C D I R E D A R L F Y R T K | V p.1140
. . . . . . g.51922
AAAGACTTGGTCGCCAGGATACATGGAAAATGGCAGGAAATAATCCAGAACTGTCGGCCT c.3480
K D L V A R I H G K W Q E I I Q N C R P p.1160
| 20 . . . . g.54362
ACTCAG | GGGCAGCTTCATGACTTCTGGGTACCAGATTCTTAA c.3522
T Q | G Q L H D F W V P D S X p.1173
. . . . . . g.54422
taggagttgcagcagcaaaaatatgaaccaagagaaattcaataagagcctttcatagag c.*60
. . . . . . g.54482
gagtagaaaggattattacagaatccaatgaatgccaagaaaatgtacagcaaatgtgcc c.*120
. . . . . . g.54542
acttgaatatctagtatgaagctggtaatgaagaaattgccatttctgaagcagatatga c.*180
. . . . . . g.54602
aatatgatctgcttaattgttaaggcaactgacctttcaaaagtgcagagtcttattaaa c.*240
. . . . . . g.54662
agaggggaggggtagaagcagaataatagtcatatgtctaacctgccccagttaactcct c.*300
. . . . . . g.54722
cttgttaaattataagccagttatcttttttagatagtatttttgtcacttggataatca c.*360
. . . . . . g.54782
caggaaatatataagaaaagagcttggactaacttgagaagttggacatggaaagcaaga c.*420
. . . . . . g.54842
ccaagttccagttgggtttaattttccctcttggttattttcggacacaaagggaatgct c.*480
. . . . . . g.54902
taaaactgagtttagtaataaaaagcataaatctcttctgtaacttttataaaccacagg c.*540
. . . . . . g.54962
gaggtttcaatccatgcattttccttcattactcaagattataaatctgtttttaaaata c.*600
. . . . . . g.55022
catctaaacaaacagttgagaaacaaaagtttggcatgttgtcagatccccttaagagga c.*660
. . . . . . g.55082
agaggttaagctgtaaagtagtggccctgttttgatgccagaacattcatatgctgtttg c.*720
. . . . . . g.55142
ttctggatttcttttaaatgcatgtattttaaatactggttaaatcttagaatcttggct c.*780
. . . . . . g.55202
atatcttagaattctggctcttggtaaccatattacagaagtctatattgtaaaagccta c.*840
. . . . . . g.55262
aagatctggacaagtttccaacaaccttgtttccatgagtatataattttggcagacacc c.*900
. . . . . . g.55322
tgaattctttgggacactgtgtctgtgtatgtgtgtgtgtgtgtgtgtgtgtgtgtgcgc c.*960
. . . . . . g.55382
ttgtatcttgaagttgttgcacttcaaaaccacagctgctgtaaattcttaaacactgga c.*1020
. . . . . . g.55442
gagccatcctttggtttaaatggtagagggttagtggaagtgcacacgttgtttttagcc c.*1080
. . . . . . g.55502
caggggtagtaacaaactcttactagccaactagaaaattattttgttgacgagatgtcc c.*1140
. . . . . . g.55562
cttttaggagggtttgtttcctgaaagaatgccaactttttttgttgttctttcagtatt c.*1200
. . . . . . g.55622
ggcttgagtgacctgttctcctgagtgctctagtgtctccagttgtgggggggaaagatg c.*1260
. . . . . . g.55682
atggaggggaacagaaactggacttgatgtttgcggtttgagaggcaagaaaataaaata c.*1320
. . . . . . g.55742
actttctacctctaaattgaggcttaggagtaaaaagcattttgtcctaaatttatcatt c.*1380
. . . . . . g.55802
taaaatagcatcagtaacttttgagctcatgtcaatcaagcattggcagtcagagatttt c.*1440
. . . . . . g.55862
atagggaagactaagtaaatccagtttccaagaacctaaactgattgaggctccaagagt c.*1500
. . . . . . g.55922
cagaccaacaaaagttttattctgtgttgtttactggtaagaatattattatcttgatac c.*1560
. . . . . . g.55982
tacctctcaagggtattgttacaaaatgccacttatggttaaagagatagatacaaagag c.*1620
. . . . . . g.56042
ttctatttgacagaagcttgaaactctggcatctatctgcccaacgatgggggctttcgt c.*1680
. . . . . . g.56102
tctgtaatttaatcctttgtagatacattatttgtgtgtaattttatacgtgttcatatt c.*1740
. . . . . . g.56162
tttctcattttgcattgtgtaaagtgtacaaaatctcaaagtataaaatactgcttatat c.*1800
. . . . . . g.56222
tgcttgtaatttacagtgtgtaaatattttctaattgtgtacattgatgggggggacaag c.*1860
. . . . . . g.56282
tgggttattcaggtttttttttaatgacccttttgtattgcagtttcaacagataactgt c.*1920
. . . . . . g.56342
ccatcaaatttaaaaccactttgatacatttttatttaacagttccaataagaaaaaaat c.*1980
. . . . . . g.56402
ctctatttttaattatatttctcctttagaaaaaaaatacttcatggtccctctaaaata c.*2040
. . . . . . g.56462
aatggccagacctcagtttaggcccttgtatttatgactctggtagaggtcttcagactc c.*2100
. . . . . . g.56522
caggtcatagtccagtcagtatttgcatttgggttctcatgaaaactttgtgactctctt c.*2160
. . . . . . g.56582
ttagcacaagtagcccatggtttttcttccaaatcaagtattttacttctcccttgagtc c.*2220
. . . . . . g.56642
cccatgctttgtctccctcctgctgctattgcccggtgaatgggatggtagagagggaga c.*2280
. . . . . . g.56702
aatgttcattgcacagagaatgtcaggccactttggggacttggcaaacgaagcttgcac c.*2340
. . . . . . g.56762
tgagtggtggtgtgtttggcaatattactgtgccaaaaatcaccttgtctaattttatgg c.*2400
. . . . . . g.56822
atatgtatggcaaacttattacccttcttgcaagctgcacattaaggtacttgtaagtgt c.*2460
. . . . . . g.56882
ttatgcttttgtgtgtaactgtttgccttttctaactgcttttcttgttactgaaaatat c.*2520
. . . . . . g.56942
aattctactagttttatcacattaagaggctctccatgcacaaaatgcattgatgtagcc c.*2580
. . . . . . g.57002
gtaaagtaacagcatttgtacattttctatctcctgatggcagtggtgcctttgtcacct c.*2640
. . . . . . g.57062
tttggaaggtttgcattttgtttctgctttcaagcgcaaatagtagcttgctttcagctt c.*2700
. . . . . . g.57122
cacaaaaatctcctcaaatgtaaaagatacaaaatggcgtgttatcatccaggcttagtt c.*2760
. . . . . . g.57182
ggagtatttgcatttttatttttatcaaaacaaatataattggtggggactggccagtaa c.*2820
. . . . . . g.57242
taatgtgtggcgtctttaagccaagagtaatttttaaattaaaaatgaaaattttaagag c.*2880
. . . . . . g.57302
gtagcccattaaacaagctactgagttggagaattaggggatgactgtggtggtttgtcg c.*2940
. . . . . . g.57362
ctaaggaggcaacagtagggtccaggcggcggggcacgtagagcagttagcatgatccat c.*3000
. . . . . . g.57422
ggttattccttactcatgaacagtgtcggcgcacctcattatctgtgcatttgtttttcc c.*3060
. . . . . . g.57482
tgggcagtcctgtcagccagttaatccaccagctcttaggaagtaaatacagattttttt c.*3120
. . . . . . g.57542
ctttccttttttttttttttaaagattttatactacatcttgttaaagtcctatgaatgt c.*3180
. . . . g.57584
gtgtgtgtgtgtgctattaaaactgctttttctcagtttgaa c.*3222
(downstream sequence)
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