Canonical Allele Identifier: CA2591631913

Gene: SRD5A1

Linked Data

• gnomAD v3: 5-6651511-A-AATT
• gnomAD v4: 5-6651511-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651513_6651514insTAT , CM000667.2:g.6651513_6651514insTAT	GRCh38
NC_000005.9:g.6651626_6651627insTAT , CM000667.1:g.6651626_6651627insTAT	GRCh37
NC_000005.8:g.6704626_6704627insTAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-329_294-328insTAT	ENSP00000518753.1:n.294-329_294-328insTAT
ENST00000510531.6:c.*415-329_*415-328insTAT	ENSP00000425330.1:n.*415-329_*415-328insTAT
ENST00000274192.7:c.294-329_294-328insTAT MANE Select	ENSP00000274192.5:n.294-329_294-328insTAT
ENST00000274192.6:c.294-329_294-328insTAT	ENSP00000274192.5:n.294-329_294-328insTAT
ENST00000504286.1:n.415-329_415-328insTAT
ENST00000510531.5:c.*415-329_*415-328insTAT	ENSP00000425330.1:n.*415-329_*415-328insTAT
ENST00000513117.1:c.294-4565_294-4564insTAT	ENSP00000421342.1:n.294-4565_294-4564insTAT
NM_001047.2:c.294-329_294-328insTAT	NP_001038.1:n.294-329_294-328insTAT
XM_011514103.1:c.320-4565_320-4564insTAT	XP_011512405.1:n.320-4565_320-4564insTAT
NM_001047.3:c.294-329_294-328insTAT	NP_001038.1:n.294-329_294-328insTAT
NM_001324322.1:c.320-4565_320-4564insTAT	NP_001311251.1:n.320-4565_320-4564insTAT
NM_001324323.1:c.75-329_75-328insTAT	NP_001311252.1:n.75-329_75-328insTAT
NR_136739.1:n.549-329_549-328insTAT
NM_001047.4:c.294-329_294-328insTAT MANE Select	NP_001038.1:n.294-329_294-328insTAT
NM_001324322.2:c.320-4565_320-4564insTAT	NP_001311251.1:n.320-4565_320-4564insTAT
NM_001324323.2:c.75-329_75-328insTAT	NP_001311252.1:n.75-329_75-328insTAT
NR_136739.2:n.431-329_431-328insTAT