Canonical Allele Identifier: CA557622613

Gene: SRD5A1

Linked Data

• dbSNP Id: rs1163999653
• gnomAD v2: 5-6651583-AAC-A
• gnomAD v3: 5-6651470-AAC-A
• gnomAD v4: 5-6651470-AAC-A
• MyVariant Identifiers: chr5:g.6651584_6651585del (hg19) ; chr5:g.6651471_6651472del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651472_6651473del , CM000667.2:g.6651472_6651473del	GRCh38
NC_000005.9:g.6651585_6651586del , CM000667.1:g.6651585_6651586del	GRCh37
NC_000005.8:g.6704585_6704586del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-370_294-369del	ENSP00000518753.1:n.294-370_294-369del
ENST00000510531.6:c.*415-370_*415-369del	ENSP00000425330.1:n.*415-370_*415-369del
ENST00000274192.7:c.294-370_294-369del MANE Select	ENSP00000274192.5:n.294-370_294-369del
ENST00000274192.6:c.294-370_294-369del	ENSP00000274192.5:n.294-370_294-369del
ENST00000504286.1:n.415-370_415-369del
ENST00000510531.5:c.*415-370_*415-369del	ENSP00000425330.1:n.*415-370_*415-369del
ENST00000513117.1:c.294-4606_294-4605del	ENSP00000421342.1:n.294-4606_294-4605del
NM_001047.2:c.294-370_294-369del	NP_001038.1:n.294-370_294-369del
XM_011514103.1:c.320-4606_320-4605del	XP_011512405.1:n.320-4606_320-4605del
NM_001047.3:c.294-370_294-369del	NP_001038.1:n.294-370_294-369del
NM_001324322.1:c.320-4606_320-4605del	NP_001311251.1:n.320-4606_320-4605del
NM_001324323.1:c.75-370_75-369del	NP_001311252.1:n.75-370_75-369del
NR_136739.1:n.549-370_549-369del
NM_001047.4:c.294-370_294-369del MANE Select	NP_001038.1:n.294-370_294-369del
NM_001324322.2:c.320-4606_320-4605del	NP_001311251.1:n.320-4606_320-4605del
NM_001324323.2:c.75-370_75-369del	NP_001311252.1:n.75-370_75-369del
NR_136739.2:n.431-370_431-369del