(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_017565.3 in the FAM20A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029809.1, covering FAM20A transcript NM_017565.3.
(upstream sequence)
. . . . g.5048
aaaggcgcaagaagcgggcaccccgggaaccccattccctcggctcac c.-241
. . . . . . g.5108
tcggcgcggagaagcgacgcccgctgactccgagagccccggtgctccgtgcacctggtc c.-181
. . . . . . g.5168
cccaagttgaggagcgacacccctccacaggggactagcccgcgcggggagcattccggt c.-121
. . . . . . g.5228
ctcactgaccccggcccacccgcgggactccaggcacctcttctgcccgcaccccgcgac c.-61
. . . . . . g.5288
ccctcccgggaccccggagacagccggcctgcccccggcgtcccccttggccagcacgcc c.-1
. . . . . . g.5348
ATGCCGGGGCTGCGCCGGGACCGCCTACTGACTCTGCTGCTGCTGGGCGCGCTGCTCTCC c.60
M P G L R R D R L L T L L L L G A L L S p.20
. . . . . . g.5408
GCCGACCTCTACTTCCACCTCTGGCCCCAAGTACAGCGCCAGCTGCGGCCTCGGGAGCGC c.120
A D L Y F H L W P Q V Q R Q L R P R E R p.40
. . . . . . g.5468
CCGCGGGGGTGCCCGTGCACCGGCCGCGCCTCCTCCCTGGCGCGGGACTCGGCCGCAGCT c.180
P R G C P C T G R A S S L A R D S A A A p.60
. . . . . . g.5528
GCCTCGGACCCCGGCACGATCGTGCACAACTTTTCCCGAACCGAGCCCCGGACTGAACCG c.240
A S D P G T I V H N F S R T E P R T E P p.80
. . . . . . g.5588
GCTGGCGGCAGCCACAGCGGGTCGAGCTCCAAGTTGCAGGCCCTCTTCGCCCACCCGCTG c.300
A G G S H S G S S S K L Q A L F A H P L p.100
. . . . . . g.5648
TACAACGTCCCGGAGGAGCCGCCTCTCCTGGGAGCCGAGGACTCGCTCCTGGCCAGCCAG c.360
Y N V P E E P P L L G A E D S L L A S Q p.120
. . . . | 02 . . g.50227
GAGGCGCTGCGGTATTACCGGAGGAAGGTGGCCCGCTGGAACAG | GCGACACAAGATGTAC c.420
E A L R Y Y R R K V A R W N R | R H K M Y p.140
. . . . . . g.50287
AGAGAGCAGATGAACCTTACCTCCCTGGACCCCCCACTGCAGCTCCGACTCGAGGCCAGC c.480
R E Q M N L T S L D P P L Q L R L E A S p.160
. . . . . . g.50347
TGGGTCCAGTTCCACCTGGGTATTAACCGCCATGGGCTCTACTCCCGGTCCAGCCCTGTT c.540
W V Q F H L G I N R H G L Y S R S S P V p.180
. . . . | 03 . g.51138
GTCAGCAAACTTCTGCAAGACATGAGGCACTTTCCCACCATCAGTGCTG | ATTACAGTCAA c.600
V S K L L Q D M R H F P T I S A D | Y S Q p.200
. . . . | 04 . . g.54023
GATGAGAAAGCCTTGCTGGGGGCATGTGACTGCACCCAGA | TTGTGAAACCCAGTGGGGTC c.660
D E K A L L G A C D C T Q I | V K P S G V p.220
. . . . . | 05 g.62234
CACCTCAAGCTGGTGCTGAGGTTCTCGGATTTCGGGAAGGCCATGTTCAAACCCATGAG | A c.720
H L K L V L R F S D F G K A M F K P M R | p.240
. . . . . . g.62294
CAGCAGCGAGATGAGGAGACACCAGTGGACTTCTTCTACTTCATTGACTTTCAGAGACAC c.780
Q Q R D E E T P V D F F Y F I D F Q R H p.260
. . . | 06 . . . g.63173
AATGCTGAGATCGCAGCTTTCCATCTGGACAG | GATTCTGGACTTCCGACGGGTGCCGCCA c.840
N A E I A A F H L D R | I L D F R R V P P p.280
. . . . . . g.63233
ACAGTGGGGAGGATAGTAAATGTCACCAAGGAAATCCTAGAGGTCACCAAGAATGAAATC c.900
T V G R I V N V T K E I L E V T K N E I p.300
. . | 07 . . . g.63821
CTGCAGAGTGTTTTCTTTGTCTCTCCAG | CGAGCAACGTGTGCTTCTTCGCCAAGTGTCCA c.960
L Q S V F F V S P A | S N V C F F A K C P p.320
. . . . . . g.63881
TACATGTGCAAGACGGAGTATGCTGTCTGTGGCAACCCACACCTGCTGGAGGGTTCCCTC c.1020
Y M C K T E Y A V C G N P H L L E G S L p.340
. . . . . . g.63941
TCTGCCTTCCTGCCGTCCCTCAACCTGGCCCCCAGGCTGTCTGTGCCCAACCCCTGGATC c.1080
S A F L P S L N L A P R L S V P N P W I p.360
. . | 08 . . . g.65027
CGCTCCTACACACTGGCAGGAAAAGAGGA | GTGGGAGGTCAATCCCCTTTACTGTGACACA c.1140
R S Y T L A G K E E | W E V N P L Y C D T p.380
. . . . . . g.65087
GTGAAACAGATCTACCCGTACAACAACAGCCAGCGGCTCCTCAATGTCATCGACATGGCC c.1200
V K Q I Y P Y N N S Q R L L N V I D M A p.400
. | 09 . . . . g.66029
ATCTTCGACTTCTTGATAG | GGAATATGGACCGGCACCATTATGAGATGTTCACCAAGTTC c.1260
I F D F L I G | N M D R H H Y E M F T K F p.420
. . . . | 10 . . g.66577
GGGGATGATGGGTTCCTTATTCACCTTGACAACGCCAGAGG | GTTCGGACGACACTCCCAT c.1320
G D D G F L I H L D N A R G | F G R H S H p.440
. . . . | 11 . . g.68232
GATGAAATCTCCATCCTCTCGCCTCTCTCCCAGTGCTGCAT | GATAAAAAAGAAAACACTT c.1380
D E I S I L S P L S Q C C M | I K K K T L p.460
. . . . . . g.68292
TTGCACCTGCAGCTGCTGGCCCAAGCTGACTACAGACTCAGCGATGTGATGCGAGAATCA c.1440
L H L Q L L A Q A D Y R L S D V M R E S p.480
. . . . . . g.68352
CTGCTGGAAGACCAGCTCAGCCCTGTCCTCACTGAACCCCACCTCCTTGCCCTGGATCGA c.1500
L L E D Q L S P V L T E P H L L A L D R p.500
. . . . . . g.68412
AGGCTCCAAACCATCCTAAGGACAGTGGAGGGGTGCATAGTGGCCCATGGACAGCAGAGT c.1560
R L Q T I L R T V E G C I V A H G Q Q S p.520
. . . . . . g.68472
GTCATAGTCGACGGCCCAGTGGAACAGTTGGCCCCAGACTCTGGCCAGGCTAACTTGACA c.1620
V I V D G P V E Q L A P D S G Q A N L T p.540
g.68478
AGCTAA c.1626
S X p.541
. . . . . . g.68538
gggctggcagagtccagtttcagaaaatacgcctggagccagagcagtcgactcgagtgc c.*60
. . . . . . g.68598
cgaccctgcgtcctcactcccacctgttactgctgggagtcaagtcagctaggaaggaag c.*120
. . . . . . g.68658
caggacattttctcaaacagcaagtggggcccatggaactgaatctttactccttggtgc c.*180
. . . . . . g.68718
accgcttctgtcgtgcgttgccttgctccgtttttcccaaaaagcactggcttcatcaag c.*240
. . . . . . g.68778
gccaccgacgatctcctgagtgcactgggaaatctgggtataggtcaggcttggcagcct c.*300
. . . . . . g.68838
tgatcccaggagagtactaatggtaacaagtcaaataaaaggacatcaagtggatacctg c.*360
. . . . . . g.68898
acttctcaggatccttattctagctacaagtcaaagataactcctggtccagacaaaaca c.*420
. . . . . . g.68958
cctggcctatcacaagctgactaaaaatctgcactttgggccagcgcaggcaacagtaac c.*480
. . . . . . g.69018
tctgacaggttcaaattagacctcacactttctactcatattctagtcactggacccatc c.*540
. . . . . . g.69078
tgaatcagtaatccctactgcccggtcctggagtaacttcttagagatattataacaagt c.*600
. . . . . . g.69138
ggcaaaaataaaagagggatttgctaagaatatcagaaaaggagtgttccaatttgaaga c.*660
. . . . . . g.69198
gtattacaattgaaataacatcaaatatgtcacactaagcagccagtaacagaataaata c.*720
. . . . . . g.69258
attacaacgaaggaaaaaaaaaggaaagtcctccaaggtcaggatggcatgggaacaggc c.*780
. . . . . . g.69318
ctagcagggacacaagcctggagtaaggcaggaaaagagccaaggctgactacagcccac c.*840
. . . . . . g.69378
caaccacaatcttcttccctaagaccccaggattgtccccggcccatccccaaaagaaga c.*900
. . . . . . g.69438
aaggggctatgtggaaaggtgaggccctctagatgcccctccctgtgacggctggctcaa c.*960
. . . . . . g.69498
aaaagactaagtcaggttttttattgaagcctcccttagaagaaagtgtagtagggattc c.*1020
. . . . . . g.69558
cttgtctcctctaccttctccctgacttgttgatatctgaaactccttttaataggaggc c.*1080
. . . . . . g.69618
tttgtttcttattccataattaatgaccgaaaacacaaaggacagtaaggtcttcattcc c.*1140
. . . . . . g.69678
atggagtgactagtcagtcaacaaaagtaaaaatgcctcatttcatcaaatcaacttttc c.*1200
. . . . . . g.69738
cagtaaaggccagagttcaaatactgtaagcatgagaatagaatggagctgtcactaaag c.*1260
. . . . . . g.69798
agagtacaaggtcaagaaccagaaatgtctccaagctttctgcagtgtgagcaaagatag c.*1320
. . . . . . g.69858
cctcgactggacaaataacacttctgaccccgtggtacccccacatgactggtatgctgc c.*1380
. . . . . . g.69918
ccctggactttgtgtctctctaaaatcactaccattcactgagatctgaccaggtgaggc c.*1440
. . . . . . g.69978
actcaccaacgctacagaagcaacacacaggtttccaatcctctcaaacacagatacaac c.*1500
. . . . . . g.70038
ccccatcctccaatgtgcatggaagaactttaaatctcagagagagtaagcaaaatcaca c.*1560
. . . . . . g.70098
caatttagtggtttagacctattccaaagtcttcttttcactgtaacacaaaacccaaca c.*1620
. . . . . . g.70158
gtatcccacccaatttatgaagtcaaatttgtttgcttaaaaaaaaaatcagctgggcat c.*1680
. . . . . . g.70218
gggctcacacctgtaatcccagcactttgggcctaaacaggcagatcgcttggtctcagg c.*1740
. . . . . . g.70278
agctcgagaccagcctgggtaacatgacaaaaccctgtctctacaaaaaaatacaaaaaa c.*1800
. . . . . . g.70338
aaaaaaatttttttttaaatcaactctttaacagagaaaccttaatcccaaagatttcct c.*1860
. . . . . . g.70398
taactgttgtggccctactgcagcatagggctccccacttcattcactgtctctcctgct c.*1920
. . . . . . g.70458
tcaagatgtttcttccctgtggatgaagaaccaggagatcacacacagaaatgggaaaat c.*1980
. . . . . . g.70518
atctgggtaaaaacattcaaagaatagcacaaaatggtttgggacttccaaataagactc c.*2040
. . . . . . g.70578
tcaggaaagcaggctacagctctacctcaaaacccgccacctcctataacgaaggactgg c.*2100
. . . . . . g.70638
ttttccaatggcctatatacacattttgctgcactctacaaacagaaagcaataggcttg c.*2160
. . . . . . g.70698
aatttcaccatgatatgtggtacacctaccttattattcacttatctttcaaccttccat c.*2220
. . . . . . g.70758
tactttttgattagtaacaaaattaagactcatttctcaaaaatatcagaaaaccaaccg c.*2280
. . . . . . g.70818
tttcattcttactcgagttcttccagcatgttcattttgaactgtttacctcccatgaaa c.*2340
. . g.70839
taaaaagtctcttgactctga c.*2361
(downstream sequence)
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