Canonical Allele Identifier: CA2658498089

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31529215-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529216_31529217del , CM000664.2:g.31529216_31529217del	GRCh38
NC_000002.11:g.31754286_31754287del , CM000664.1:g.31754286_31754287del	GRCh37
NC_000002.10:g.31607790_31607791del	NCBI36
NG_008365.1:g.56755_56756del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.698+90_698+91del MANE Select	ENSP00000477587.1:n.698+90_698+91del
ENST00000622030.1:c.698+90_698+91del	ENSP00000477587.1:n.698+90_698+91del
NM_000348.3:c.698+90_698+91del	NP_000339.2:n.698+90_698+91del
XM_011533069.1:c.476+90_476+91del	XP_011531371.1:n.476+90_476+91del
XM_011533070.1:c.443+90_443+91del	XP_011531372.1:n.443+90_443+91del
XM_011533071.1:c.443+90_443+91del	XP_011531373.1:n.443+90_443+91del
XM_011533072.1:c.443+90_443+91del	XP_011531374.1:n.443+90_443+91del
XM_011533069.2:c.476+90_476+91del	XP_011531371.1:n.476+90_476+91del
XM_011533072.2:c.443+90_443+91del	XP_011531374.1:n.443+90_443+91del
NM_000348.4:c.698+90_698+91del MANE Select	NP_000339.2:n.698+90_698+91del