(used for variant description)
(last modified October 23, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_022454.3 in the SOX17 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028171.1, covering SOX17 transcript NM_022454.3.
(upstream sequence)
. . g.5024
gcagtgtcactaggccggctgggg c.-181
. . . . . . g.5084
gccctgggtacgctgtagaccagaccgcgacaggccagaacacgggcggcggcttcgggc c.-121
. . . . . . g.5144
cgggagacccgcgcagccctcggggcatctcagtgcctcactccccaccccctcccccgg c.-61
. . . . . . g.5204
gtcgggggaggcggcgcgtccggcggagggttgaggggagcggggcaggcctggagcgcc c.-1
. . . . . . g.5264
ATGAGCAGCCCGGATGCGGGATACGCCAGTGACGACCAGAGCCAGACCCAGAGCGCGCTG c.60
M S S P D A G Y A S D D Q S Q T Q S A L p.20
. . . . . . g.5324
CCCGCGGTGATGGCCGGGCTGGGCCCCTGCCCCTGGGCCGAGTCGCTGAGCCCCATCGGG c.120
P A V M A G L G P C P W A E S L S P I G p.40
. . . . . . g.5384
GACATGAAGGTGAAGGGCGAGGCGCCGGCGAACAGCGGAGCACCGGCCGGGGCCGCGGGC c.180
D M K V K G E A P A N S G A P A G A A G p.60
. . . . . . g.5444
CGAGCCAAGGGCGAGTCCCGTATCCGGCGGCCGATGAACGCTTTCATGGTGTGGGCTAAG c.240
R A K G E S R I R R P M N A F M V W A K p.80
. . . . . . g.5504
GACGAGCGCAAGCGGCTGGCGCAGCAGAATCCAGACCTGCACAACGCCGAGTTGAGCAAG c.300
D E R K R L A Q Q N P D L H N A E L S K p.100
| 02. . . . . . g.6176
ATGCTGG | GCAAGTCGTGGAAGGCGCTGACGCTGGCGGAGAAGCGGCCCTTCGTGGAGGAG c.360
M L G | K S W K A L T L A E K R P F V E E p.120
. . . . . . g.6236
GCAGAGCGGCTGCGCGTGCAGCACATGCAGGACCACCCCAACTACAAGTACCGGCCGCGG c.420
A E R L R V Q H M Q D H P N Y K Y R P R p.140
. . . . . . g.6296
CGGCGCAAGCAGGTGAAGCGGCTGAAGCGGGTGGAGGGCGGCTTCCTGCACGGCCTGGCT c.480
R R K Q V K R L K R V E G G F L H G L A p.160
. . . . . . g.6356
GAGCCGCAGGCGGCCGCGCTGGGCCCCGAGGGCGGCCGCGTGGCCATGGACGGCCTGGGC c.540
E P Q A A A L G P E G G R V A M D G L G p.180
. . . . . . g.6416
CTCCAGTTCCCCGAGCAGGGCTTCCCCGCCGGCCCGCCGCTGCTGCCTCCGCACATGGGC c.600
L Q F P E Q G F P A G P P L L P P H M G p.200
. . . . . . g.6476
GGCCACTACCGCGACTGCCAGAGTCTGGGCGCGCCTCCGCTCGACGGCTACCCGTTGCCC c.660
G H Y R D C Q S L G A P P L D G Y P L P p.220
. . . . . . g.6536
ACGCCCGACACGTCCCCGCTGGACGGCGTGGACCCCGACCCGGCTTTCTTCGCCGCCCCG c.720
T P D T S P L D G V D P D P A F F A A P p.240
. . . . . . g.6596
ATGCCCGGGGACTGCCCGGCGGCCGGCACCTACAGCTACGCGCAGGTCTCGGACTACGCT c.780
M P G D C P A A G T Y S Y A Q V S D Y A p.260
. . . . . . g.6656
GGCCCCCCGGAGCCTCCCGCCGGTCCCATGCACCCCCGACTCGGCCCAGAGCCCGCGGGT c.840
G P P E P P A G P M H P R L G P E P A G p.280
. . . . . . g.6716
CCCTCGATTCCGGGCCTCCTGGCGCCACCCAGCGCCCTTCACGTGTACTACGGCGCGATG c.900
P S I P G L L A P P S A L H V Y Y G A M p.300
. . . . . . g.6776
GGCTCGCCCGGGGCGGGCGGCGGGCGCGGCTTCCAGATGCAGCCGCAACACCAGCACCAG c.960
G S P G A G G G R G F Q M Q P Q H Q H Q p.320
. . . . . . g.6836
CACCAGCACCAGCACCACCCCCCGGGCCCCGGACAGCCGTCGCCCCCTCCGGAGGCACTG c.1020
H Q H Q H H P P G P G Q P S P P P E A L p.340
. . . . . . g.6896
CCCTGCCGGGACGGCACGGACCCCAGTCAGCCCGCCGAGCTCCTCGGGGAGGTGGACCGC c.1080
P C R D G T D P S Q P A E L L G E V D R p.360
. . . . . . g.6956
ACGGAATTTGAACAGTATCTGCACTTCGTGTGCAAGCCTGAGATGGGCCTCCCCTACCAG c.1140
T E F E Q Y L H F V C K P E M G L P Y Q p.380
. . . . . . g.7016
GGGCATGACTCCGGTGTGAATCTCCCCGACAGCCACGGGGCCATTTCCTCGGTGGTGTCC c.1200
G H D S G V N L P D S H G A I S S V V S p.400
. . . . g.7061
GACGCCAGCTCCGCGGTATATTACTGCAACTATCCTGACGTGTGA c.1245
D A S S A V Y Y C N Y P D V X p.414
. . . . . . g.7121
caggtccctgatccgccccagcctgcaggccagaagcagtgttacacacttcctggagga c.*60
. . . . . . g.7181
gctaaggaaatcctcagactcctgggtttttgttgttgctgttgttgttttttaaaaggt c.*120
. . . . . . g.7241
gtgttggcatataatttatggtaatttattttgtctgccacttgaacagtttgggggggt c.*180
. . . . . . g.7301
gaggtttcatttaaaatttgttcagagatttgtttcccatagttggattgtcaaaaccct c.*240
. . . . . . g.7361
atttccaagttcaagttaactagctttgaatgtgtcccaaaacagcttcctccatttcct c.*300
. . . . . . g.7421
gaaagtttattgatcaaagaaatgttgtcctgggtgtgttttttcaatcttctaaaaaat c.*360
. . . . . . g.7481
aaaatctggaatcctgcttttttgctctactagtacctctgtcacactagtcttatcaaa c.*420
. . . . . . g.7541
aaccagttcttaagatcaatgttaagtttattagttaatgtaaatttctcatcctcgaaa c.*480
. . . . . . g.7601
agggtgaacataaatgcctttaaggagtatatctaaaaataaacattaggatatctaagt c.*540
. . . . . . g.7661
ttgatgtaattgtttcaggaaggaaaaaagaaaagcattctggaatgagcctacttcaag c.*600
. . . . . . g.7721
taatcttagtttctaaaactaacagttaatattttcaattccagtatatcactttaagta c.*660
. . . . . . g.7781
gaaggggatgtccaagtaattttggttttctaactgttgaatcataagcttgacctgccc c.*720
. . . . . . g.7841
ccagaggctttttggatgtttttatctgtgttttgccatctctttacactcctcgacatt c.*780
. . . . . . g.7901
cagtttaccttaatcttcacatttttacaccttgggaagtggcaagcatcgctgggttta c.*840
. . . . . . g.7961
agataaaggagtcacaaaaactaatcaaaataaaatttgcattatgacaacttttaatac c.*900
g.7962
a c.*901
(downstream sequence)
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