Linked Data
dbSNP Id:
rs1564778090
gnomAD v2:
10-104592278-CGTT-C
gnomAD v4:
10-102832521-CGTT-C
MyVariant Identifiers:
chr10:g.104592279_104592281del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832523_102832525del , CM000672.2:g.102832523_102832525del | GRCh38 |
| NC_000010.10:g.104592280_104592282del , CM000672.1:g.104592280_104592282del | GRCh37 |
| NC_000010.9:g.104582270_104582272del | NCBI36 |
| NG_007955.1:g.10010_10012del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1126_1128del (CYP17A1) MANE Select | ENSP00000358903.3:p.Asn376del | |
| ENST00000638190.1:c.823_825del (CYP17A1) | ENSP00000492539.1:p.Asn275del | |
| ENST00000638272.1:c.670_672del (CYP17A1) | ENSP00000491508.1:p.Asn224del | |
| ENST00000638971.1:c.1039_1041del (CYP17A1) | ENSP00000492313.1:p.Asn347del | |
| ENST00000639393.1:c.1126_1128del (CYP17A1) | ENSP00000492651.1:p.Asn376del | |
| ENST00000640633.1:n.888_890del (CYP17A1) | ||
| ENST00000647664.1:c.*1554_*1556del (WBP1L) | ENSP00000498131.1:n.*1554_*1556del | |
| ENST00000369887.3:c.1126_1128del (CYP17A1) | ENSP00000358903.3:p.Asn376del | |
| NM_000102.3:c.1126_1128del (CYP17A1) | NP_000093.1:p.Asn376del | |
| NM_000102.4:c.1126_1128del (CYP17A1) MANE Select | NP_000093.1:p.Asn376del |