Linked Data
ClinVar Variation Id:
1777
dbSNP Id:
rs556794126
ExAC:
10:104590547 G / GGGAT
gnomAD v2:
10-104590547-G-GGGAT
gnomAD v3:
10-102830790-G-GGGAT
gnomAD v4:
10-102830790-G-GGGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102830792_102830795dup , CM000672.2:g.102830792_102830795dup | GRCh38 |
| NC_000010.10:g.104590549_104590552dup , CM000672.1:g.104590549_104590552dup | GRCh37 |
| NC_000010.9:g.104580539_104580542dup | NCBI36 |
| NG_007955.1:g.11740_11743dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1435_1438dup (CYP17A1) MANE Select | ENSP00000358903.3:p.Pro480HisfsTer27 | |
| ENST00000638190.1:c.1132_1135dup (CYP17A1) | ENSP00000492539.1:p.Pro379HisfsTer27 | |
| ENST00000638272.1:c.979_982dup (CYP17A1) | ENSP00000491508.1:p.Pro328HisfsTer27 | |
| ENST00000638971.1:c.1348_1351dup (CYP17A1) | ENSP00000492313.1:p.Pro451HisfsTer27 | |
| ENST00000639393.1:c.1438_1441dup (CYP17A1) | ENSP00000492651.1:p.Pro481HisfsTer27 | |
| ENST00000640633.1:n.1197_1200dup (CYP17A1) | ||
| ENST00000647664.1:c.*474_*477dup (WBP1L) | ENSP00000498131.1:n.*474_*477dup | |
| ENST00000369887.3:c.1435_1438dup (CYP17A1) | ENSP00000358903.3:p.Pro480HisfsTer27 | |
| NM_000102.3:c.1435_1438dup (CYP17A1) | NP_000093.1:p.Pro480HisfsTer27 | |
| NM_000102.4:c.1435_1438dup (CYP17A1) MANE Select | NP_000093.1:p.Pro480HisfsTer27 |