Canonical Allele Identifier: CA918748678
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152094
ClinVar RCV Id: RCV003079112
dbSNP Id: rs1402132413
gnomAD v3: 10-102837184-A-AT
gnomAD v4: 10-102837184-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102837190dup , CM000672.2:g.102837190dup GRCh38
NC_000010.10:g.104596947dup , CM000672.1:g.104596947dup GRCh37
NC_000010.9:g.104586937dup NCBI36
NG_007955.1:g.5349dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.177dup MANE Select ENSP00000358903.3:p.Tyr60IlefsTer29
ENST00000638190.1:c.177dup ENSP00000492539.1:p.Tyr60IlefsTer29
ENST00000638272.1:c.177dup ENSP00000491508.1:p.Tyr60IlefsTer29
ENST00000638971.1:c.177dup ENSP00000492313.1:p.Tyr60IlefsTer29
ENST00000639393.1:c.177dup ENSP00000492651.1:p.Tyr60IlefsTer29
ENST00000369887.3:c.177dup ENSP00000358903.3:p.Tyr60IlefsTer29
ENST00000489268.1:n.230dup
NM_000102.3:c.177dup NP_000093.1:p.Tyr60IlefsTer29
NM_000102.4:c.177dup MANE Select NP_000093.1:p.Tyr60IlefsTer29
Search 100 bp 5'
Search 100 bp 3'