Canonical Allele Identifier: CA813205727

Gene: SRD5A1

Linked Data

• dbSNP Id: rs1181716499
• gnomAD v3: 5-6651620-ACTGTACTGCAGCC-A
• gnomAD v4: 5-6651620-ACTGTACTGCAGCC-A
• MyVariant Identifiers: chr5:g.6651734_6651746del (hg19) ; chr5:g.6651621_6651633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651621_6651633del , CM000667.2:g.6651621_6651633del	GRCh38
NC_000005.9:g.6651734_6651746del , CM000667.1:g.6651734_6651746del	GRCh37
NC_000005.8:g.6704734_6704746del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-221_294-209del	ENSP00000518753.1:n.294-221_294-209del
ENST00000510531.6:c.*415-221_*415-209del	ENSP00000425330.1:n.*415-221_*415-209del
ENST00000274192.7:c.294-221_294-209del MANE Select	ENSP00000274192.5:n.294-221_294-209del
ENST00000274192.6:c.294-221_294-209del	ENSP00000274192.5:n.294-221_294-209del
ENST00000504286.1:n.415-221_415-209del
ENST00000510531.5:c.*415-221_*415-209del	ENSP00000425330.1:n.*415-221_*415-209del
ENST00000513117.1:c.294-4457_294-4445del	ENSP00000421342.1:n.294-4457_294-4445del
NM_001047.2:c.294-221_294-209del	NP_001038.1:n.294-221_294-209del
XM_011514103.1:c.320-4457_320-4445del	XP_011512405.1:n.320-4457_320-4445del
NM_001047.3:c.294-221_294-209del	NP_001038.1:n.294-221_294-209del
NM_001324322.1:c.320-4457_320-4445del	NP_001311251.1:n.320-4457_320-4445del
NM_001324323.1:c.75-221_75-209del	NP_001311252.1:n.75-221_75-209del
NR_136739.1:n.549-221_549-209del
NM_001047.4:c.294-221_294-209del MANE Select	NP_001038.1:n.294-221_294-209del
NM_001324322.2:c.320-4457_320-4445del	NP_001311251.1:n.320-4457_320-4445del
NM_001324323.2:c.75-221_75-209del	NP_001311252.1:n.75-221_75-209del
NR_136739.2:n.431-221_431-209del