Canonical Allele Identifier: CA45136274

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529019_31529021del , CM000664.2:g.31529019_31529021del	GRCh38
NC_000002.11:g.31754089_31754091del , CM000664.1:g.31754089_31754091del	GRCh37
NC_000002.10:g.31607593_31607595del	NCBI36
NG_008365.1:g.56955_56957del

Transcript Alleles

HGVS	Amino-acid Change
NM_000348.4:c.698+290_698+292del MANE Select	NP_000339.2:n.698+290_698+292del
ENST00000622030.2:c.698+290_698+292del MANE Select	ENSP00000477587.1:n.698+290_698+292del
NM_000348.3:c.698+290_698+292del	NP_000339.2:n.698+290_698+292del
ENST00000622030.1:c.698+290_698+292del	ENSP00000477587.1:n.698+290_698+292del
XM_011533069.1:c.476+290_476+292del	XP_011531371.1:n.476+290_476+292del
XM_011533069.2:c.476+290_476+292del	XP_011531371.1:n.476+290_476+292del
XM_011533070.1:c.443+290_443+292del	XP_011531372.1:n.443+290_443+292del
XM_011533071.1:c.443+290_443+292del	XP_011531373.1:n.443+290_443+292del
XM_011533072.1:c.443+290_443+292del	XP_011531374.1:n.443+290_443+292del
XM_011533072.2:c.443+290_443+292del	XP_011531374.1:n.443+290_443+292del