Canonical Allele Identifier: CA2610724599

Gene: CYP17A1

Linked Data

• gnomAD v4: 10-102835306-CGCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102835310_102835313del , CM000672.2:g.102835310_102835313del	GRCh38
NC_000010.10:g.104595067_104595070del , CM000672.1:g.104595067_104595070del	GRCh37
NC_000010.9:g.104585057_104585060del	NCBI36
NG_007955.1:g.7224_7227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.380_383del MANE Select	ENSP00000358903.3:p.Leu127ArgfsTer?
ENST00000638190.1:c.380_383del	ENSP00000492539.1:p.Leu127ArgfsTer?
ENST00000638272.1:c.297+1755_297+1758del	ENSP00000491508.1:n.297+1755_297+1758del
ENST00000638971.1:c.380_383del	ENSP00000492313.1:p.Leu127ArgfsTer?
ENST00000639393.1:c.380_383del	ENSP00000492651.1:p.Leu127ArgfsTer?
ENST00000640633.1:n.142_145del
ENST00000369887.3:c.380_383del	ENSP00000358903.3:p.Leu127ArgfsTer?
ENST00000489268.1:n.634_637del
NM_000102.3:c.380_383del	NP_000093.1:p.Leu127ArgfsTer?
NM_000102.4:c.380_383del MANE Select	NP_000093.1:p.Leu127ArgfsTer?