Canonical Allele Identifier: CA2695201039
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2681107
ClinVar RCV Id: RCV003468642
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102834819_102834820del , CM000672.2:g.102834819_102834820del GRCh38
NC_000010.10:g.104594576_104594577del , CM000672.1:g.104594576_104594577del GRCh37
NC_000010.9:g.104584566_104584567del NCBI36
NG_007955.1:g.7715_7716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.632_633del MANE Select ENSP00000358903.3:p.Lys211ArgfsTer26
ENST00000638190.1:c.632_633del ENSP00000492539.1:p.Lys211ArgfsTer21
ENST00000638272.1:c.298-1611_298-1610del ENSP00000491508.1:n.298-1611_298-1610del
ENST00000638971.1:c.632_633del ENSP00000492313.1:p.Lys211ArgfsTer17
ENST00000639393.1:c.632_633del ENSP00000492651.1:p.Lys211ArgfsTer26
ENST00000640633.1:n.394_395del
ENST00000369887.3:c.632_633del ENSP00000358903.3:p.Lys211ArgfsTer26
ENST00000489268.1:n.886_887del
NM_000102.3:c.632_633del NP_000093.1:p.Lys211ArgfsTer26
NM_000102.4:c.632_633del MANE Select NP_000093.1:p.Lys211ArgfsTer26
Search 100 bp 5'
Search 100 bp 3'