(used for variant description)
(last modified May 12, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_017633.2 in the FAM46A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering FAM46A transcript NM_017633.2.
(upstream sequence)
. g.5018
tataaaaaaagtactgaa c.-301
. . . . . . g.5078
gacattttccccgcacaactgctaaagctccagagacacgagcgtgtgtggcagcaagag c.-241
. . . . . . g.5138
ccgccagttcgggaccaccgcagctggggtggcagcggcgcaggaggggtcgcggggagg c.-181
. . . . . . g.5198
gagtggtgagcgcaggcggcaggggtctgggaaagacgaagtcgctatttgctgtctgag c.-121
. . . . . . g.5258
cgcgctcgcagctcctggaagtgttgccgcctctcggtttcgctctcgctcgctgcgctc c.-61
. . . | 02 . . . g.5570
ctagaaggggcggccgcctccag | gactgaccagggccaagtggcgctcggcgggcactac c.-1
. . . . . . g.5630
ATGGCGGAGGGTGAAGGGTACTTCGCCATGTCTGAGGACGAGCTGGCCTGCAGCCCCTAC c.60
M A E G E G Y F A M S E D E L A C S P Y p.20
. . . . . . g.5690
ATCCCCCTAGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGC c.120
I P L G G D F G G G D F G G G D F G G G p.40
. . . . . . g.5750
GACTTCGGCGGTGGCGGCAGCTTCGGTGGGCATTGCTTGGACTATTGCGAAAGCCCTACG c.180
D F G G G G S F G G H C L D Y C E S P T p.60
. . . . . . g.5810
GCGCACTGCAATGTGCTGAACTGGGAGCAAGTGCAGCGGCTGGACGGCATCCTGAGCGAG c.240
A H C N V L N W E Q V Q R L D G I L S E p.80
. . . . . . g.5870
ACCATTCCGATTCACGGGCGCGGCAACTTCCCCACGCTCGAGCTGCAGCCGAGCCTGATC c.300
T I P I H G R G N F P T L E L Q P S L I p.100
. . . . . . g.5930
GTGAAGGTGGTGCGGCGGCGCCTGGCCGAGAAGCGCATTGGCGTCCGCGACGTGCGCCTC c.360
V K V V R R R L A E K R I G V R D V R L p.120
. . . . . . g.5990
AACGGCTCGGCAGCCAGCCATGTCCTGCACCAGGACAGCGGCCTGGGCTACAAGGACCTG c.420
N G S A A S H V L H Q D S G L G Y K D L p.140
. . . . . . g.6050
GACCTCATCTTCTGCGCCGACCTGCGCGGGGAAGGGGAGTTTCAGACTGTGAAGGACGTC c.480
D L I F C A D L R G E G E F Q T V K D V p.160
. . . . . . g.6110
GTGCTGGACTGCCTGTTGGACTTCTTACCCGAGGGGGTGAACAAAGAGAAGATCACACCA c.540
V L D C L L D F L P E G V N K E K I T P p.180
. | 03 . . . . . g.7288
CTCACGCTCAAG | GAAGCTTATGTGCAGAAAATGGTTAAAGTGTGCAATGACTCTGACCGA c.600
L T L K | E A Y V Q K M V K V C N D S D R p.200
. . . . . . g.7348
TGGAGTCTTATATCCCTGTCAAACAACAGTGGCAAAAATGTGGAACTGAAATTTGTGGAT c.660
W S L I S L S N N S G K N V E L K F V D p.220
. . . . . . g.7408
TCCCTCCGGAGGCAGTTTGAATTCAGTGTAGATTCTTTTCAAATCAAATTAGACTCTCTT c.720
S L R R Q F E F S V D S F Q I K L D S L p.240
. . . . . . g.7468
CTGCTCTTTTATGAATGTTCAGAGAACCCAATGACTGAGACATTTCACCCCACAATAATC c.780
L L F Y E C S E N P M T E T F H P T I I p.260
. . . . . . g.7528
GGGGAGAGCGTCTATGGCGATTTCCAGGAAGCCTTTGATCACCTTTGTAACAAGATCATT c.840
G E S V Y G D F Q E A F D H L C N K I I p.280
. . . . . . g.7588
GCCACCAGGAACCCAGAGGAAATCCGAGGGGGAGGCCTGCTTAAGTACTGCAACCTCTTG c.900
A T R N P E E I R G G G L L K Y C N L L p.300
. . . . . . g.7648
GTGAGGGGCTTTAGGCCCGCCTCTGATGAAATCAAGACCCTTCAAAGGTATATGTGTTCC c.960
V R G F R P A S D E I K T L Q R Y M C S p.320
. . . . . . g.7708
AGGTTTTTCATCGACTTCTCAGACATTGGAGAGCAGCAGAGAAAACTGGAGTCCTATTTG c.1020
R F F I D F S D I G E Q Q R K L E S Y L p.340
. . . . . . g.7768
CAGAACCACTTTGTGGGATTGGAAGACCGCAAGTATGAGTATCTCATGACCCTTCATGGA c.1080
Q N H F V G L E D R K Y E Y L M T L H G p.360
. . . . . . g.7828
GTGGTAAATGAGAGCACAGTGTGCCTGATGGGACATGAAAGAAGACAGACTTTAAACCTT c.1140
V V N E S T V C L M G H E R R Q T L N L p.380
. . . . . . g.7888
ATCACCATGCTGGCTATCCGGGTGTTAGCTGACCAAAATGTCATTCCTAATGTGGCTAAT c.1200
I T M L A I R V L A D Q N V I P N V A N p.400
. . . . . . g.7948
GTCACTTGCTATTACCAGCCAGCCCCCTATGTAGCAGATGCCAACTTTAGCAATTACTAC c.1260
V T C Y Y Q P A P Y V A D A N F S N Y Y p.420
. . . . . . g.8008
ATTGCACAGGTTCAGCCAGTATTCACGTGCCAGCAACAGACCTACTCCACTTGGCTACCC c.1320
I A Q V Q P V F T C Q Q Q T Y S T W L P p.440
g.8017
TGCAATTAA c.1329
C N X p.442
. . . . . . g.8077
gaatcatttaaaaatgtcctgtggggaagccatttcagacaagacaggagagaaaaaaaa c.*60
. . . . . . g.8137
aaaaaagaaaaaaaaaagagtgatccagcccttattagggatgtgttttgtgcaatgatg c.*120
. . . . . . g.8197
atatgctcctggttttaagtttggcaaagcttatgtatcttttaatagatgtgggagcat c.*180
. . . . . . g.8257
gatctcgaaaggatccttttcccttctcttattctcctacccaattggattctatcctgc c.*240
. . . . . . g.8317
aaaaaaagagagacctgtcattagaagcaaccaggttctcctgatacaagagaagaaatg c.*300
. . . . . . g.8377
tgtgatgacaatatgggtttgctgtatctgctcccatagctttgccataggaaaaaaaaa c.*360
. . . . . . g.8437
agtggaaagtttcttttaagatggaattcataaaagggaaaatacggaggaaaaaaggtc c.*420
. . . . . . g.8497
tcactccaacttgtgaatcagtttaggagttcagatattaatagtaacaatacaggaaaa c.*480
. . . . . . g.8557
aggggaactccaacgttgggattactgtctgaggcttgtagcaagtgctttctgtggaat c.*540
. . . . . . g.8617
gatcttgttttgctaacaaacggcttgctccaaatgaacagtagtaggttggtgcagttc c.*600
. . . . . . g.8677
tcgtaacaatcagcagaacttatgatgacacaatccattaattccagctgcgtgcataga c.*660
. . . . . . g.8737
tcacatttttaaaatgtaaaaatgcaagcaaaaacagctgtaacaaagaaagtgtgctca c.*720
. . . . . . g.8797
aggaccaaagatttaacagataaaaatacccaattagaagagatatagtagactatatga c.*780
. . . . . . g.8857
agagagattatatttgttacacaccaatatacatcaaagtgcctgttgccttctgaaaat c.*840
. . . . . . g.8917
ttgaagtggcaaaattattttatggtttaatgattattttattttatcagggactgcctc c.*900
. . . . . . g.8977
aagaagaaaataacataagcttgtgaatggtggagaaaatgccctattttttcttgcaaa c.*960
. . . . . . g.9037
tacttgtataaagttaacatttgttgatctgatattatcataggtacatgtgtatgtgtg c.*1020
. . . . . . g.9097
tataaattatatgtgtgtgtgtatatatacattttatatatacattttatatgtatatat c.*1080
. . . . . . g.9157
acacagtagattgactatgatctagaataatgtctcaaataggaaatgtttaaatactgt c.*1140
. . . . . . g.9217
gtgtttttatgttttcaacaggataacatgagacgtgggcatattgcaatgatgaattaa c.*1200
. . . . . . g.9277
atccacatctaaaaaaattaaatgaaggagggaaccaagtaatatatttcataggaagag c.*1260
. . . . . . g.9337
cagaaattatactgttttagtgggatttttttttctttttttttttttctttggtgagcc c.*1320
. . . . . . g.9397
ataaaattccacaaatgggagaatatttgtttggcagagcactcttttttatattgaact c.*1380
. . . . . . g.9457
gccattttgacagttggaacccatttattaaaaaaaaaattgcattcctctatgatgttt c.*1440
. . . . . . g.9517
aatctagtggatcatggatcagtaataggctacttaaatccctgactgctaaaaaggatt c.*1500
. . . . . . g.9577
tccggtgatctaaacactacttgctaatgtttaaatgaattttaatgaatgcattctgca c.*1560
. . . . . . g.9637
tttctggaccactagaatttagtaatgtgaaatgaccctttttacagaatatttgcacaa c.*1620
. . . . . . g.9697
ttgcttaaaatttatatatgagatatatattatatataacattttataaatcatgtcaat c.*1680
. . . . . . g.9757
atgaaacatctttgatctggttgtcacactgcatttaaatatttagtactgtactttaaa c.*1740
. . . . . . g.9817
tcgctttccattaaatcaaatccaactttattttctttcttacaaaaataccagttatac c.*1800
. . . . . . g.9877
ctttgtgaaatgaactggcattactatttcagttcaataacagctaatcctaaaaccacc c.*1860
. . . . . . g.9937
ctttctcctagccagtagttcctctagatactggtctctgaaaatgcatttgttaaaaac c.*1920
. . . . . . g.9997
aaaacaaaactaacacataagaaccttccctttgtgttgtgaaacaaccacataatctcc c.*1980
. . . . . . g.10057
acaaccttagtggatgactgcttgctatgataattcctcgaagacccaattagaagattt c.*2040
. . . . . . g.10117
tcatcatcagttaaagagagaccacgggagaaaaaaatatcctcctgttggcagtataat c.*2100
. . . . . . g.10177
ttgtttgtttgtttatctagggatcctcagatgcttagtgctaggttaatccaggttaat c.*2160
. . . . . . g.10237
ccgtctggactaccttttgtgcatctttctttgaagccttaatgggaacctgatgggttt c.*2220
. . . . . . g.10297
gctgtagcagcttccttgtgaattctgtcagagctgcaacagccgctgcactgccactca c.*2280
. . . . . . g.10357
gttttctaaggaactcctcctactaccatcttggctcagtctccctcacttaagccctgg c.*2340
. . . . . . g.10417
gtttgaaaaattaattgcaacttcccaggaaacattgttcagtttgcagattaagcctgg c.*2400
. . . . . . g.10477
cactcacctatcagaaaccagagctccgcctgcttagttgtttcaaagttttctgaaaga c.*2460
. . . . . . g.10537
aaactaggggagcacttgtgaacacaggagcagctggtgatctgctttcttaccctaact c.*2520
. . . . . . g.10597
cttgacaaatgagtcgtctactattttaaagagtctggaggtctctgactctgccataac c.*2580
. . . . . . g.10657
aataacctgctgttaatttataacacagatttttgtttggaagagccttatttgaaatac c.*2640
. . . . . . g.10717
actttgatttattttcttaaatatttatattcttttcttgcttacttcagggttggtagc c.*2700
. . . . . . g.10777
ttagttggaagtgccagcacctggcacctattcatatagaacaggctgtactcaagacaa c.*2760
. . . . . . g.10837
cttctagcatttactttaagacttatataatttatttctattttgtgtgtactatagtct c.*2820
. . . . . . g.10897
tgtgcatatgtagttgaacacacagtgaaatatatgtctctctttgtggatgtgcggcct c.*2880
. . . . . . g.10957
aaaaatttgaatgtctggtgagagagagccatgtgtataggtcagagaaaagaacagctc c.*2940
. . . . . . g.11017
ccgactccctattagcgcctgtgatttgtttccttttgtgtttatctggcctagtgtgct c.*3000
. . . . . . g.11077
gtttctttaaaccaggaagaagttttgtcttttggaggctcttctcacctgtccagcctg c.*3060
. . . . . . g.11137
gcatgtcagagaacacatagcctgtgacaatgccgtttttaaaggtttacttaatttgca c.*3120
. . . . . . g.11197
gtaaatccagctgcctcaagaactcctacaccaagatggacatttcctttccagaaatgg c.*3180
. . . . . . g.11257
gatcaagtatctgctcactttggtattggatggactaataatgtagctccaaaaatgcaa c.*3240
. . . . . . g.11317
ggatggaagaatatgtgtaatccaaaccaaggaaggaaatgaaaagtgaacgtactgttt c.*3300
. . . . . . g.11377
ttaccacccctttctgtttgcttattgttggttgcttcactgtgcataaagttgttttca c.*3360
. . . . . . g.11437
atgcaacgcttgttaaataaatattgtgaactattttgtaaatgaaatgtattatgttga c.*3420
. . . . . . g.11497
aagctgtcagttcaaaaataagcttttttgttgttgttgaagatgaagtgtgttaggtga c.*3480
. . . . . . g.11557
aaccaaaaagccaaaaaaagtaatttcatatatagcatctatttgaatataatctttctt c.*3540
. . . . . . g.11617
taaaatttcttttagcatagcattttcagtgctaagaaagaatctctatgttatattttg c.*3600
. . . . . . g.11677
ttaaaataatggctttctaacaaagcaaatggtaaagtacaaagttggaagatgtcaagt c.*3660
. . . . . . g.11737
taacgagacttgctgcaaagccttgcagaacggaggaggctctgcctgctggctgtctct c.*3720
. . . . . . g.11797
ccctccaacctctctacaatcatgcctgctttgaggtgttctgttgcagcaagctgcacc c.*3780
. . . . . . g.11857
ttgggtcactcttttggaatattttgactataggctgcgtcacaggcagaaaaggagttg c.*3840
. . . . . . g.11917
atggaaaatggactaaaaaactgacatgtttgaatcagtgctagagggaacagattgtga c.*3900
. . . . . . g.11977
attttgtttacagcatccaatatttggatttttttgtaaataaaaaagttatttttttct c.*3960
g.11982
attga c.*3965
(downstream sequence)
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