Canonical Allele Identifier: CA2658499248

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533674-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533676del , CM000664.2:g.31533676del	GRCh38
NC_000002.11:g.31758746del , CM000664.1:g.31758746del	GRCh37
NC_000002.10:g.31612250del	NCBI36
NG_008365.1:g.52297del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.373del MANE Select	ENSP00000477587.1:p.Leu125PhefsTer6
ENST00000622030.1:c.373del	ENSP00000477587.1:p.Leu125PhefsTer6
NM_000348.3:c.373del	NP_000339.2:p.Leu125PhefsTer6
XM_011533068.1:c.373del	XP_011531370.1:p.Leu125PhefsTer6
XM_011533069.1:c.151del	XP_011531371.1:p.Leu51PhefsTer6
XM_011533070.1:c.118del	XP_011531372.1:p.Leu40PhefsTer6
XM_011533071.1:c.118del	XP_011531373.1:p.Leu40PhefsTer6
XM_011533072.1:c.118del	XP_011531374.1:p.Leu40PhefsTer6
XM_011533069.2:c.151del	XP_011531371.1:p.Leu51PhefsTer6
XM_011533072.2:c.118del	XP_011531374.1:p.Leu40PhefsTer6
NM_000348.4:c.373del MANE Select	NP_000339.2:p.Leu125PhefsTer6