Canonical Allele Identifier: CA813205594

Gene: SRD5A1

Linked Data

• dbSNP Id: rs1222865114
• gnomAD v3: 5-6651478-GA-G
• gnomAD v4: 5-6651478-GA-G
• MyVariant Identifiers: chr5:g.6651592del (hg19) ; chr5:g.6651479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651479del , CM000667.2:g.6651479del	GRCh38
NC_000005.9:g.6651592del , CM000667.1:g.6651592del	GRCh37
NC_000005.8:g.6704592del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-363del	ENSP00000518753.1:n.294-363del
ENST00000510531.6:c.*415-363del	ENSP00000425330.1:n.*415-363del
ENST00000274192.7:c.294-363del MANE Select	ENSP00000274192.5:n.294-363del
ENST00000274192.6:c.294-363del	ENSP00000274192.5:n.294-363del
ENST00000504286.1:n.415-363del
ENST00000510531.5:c.*415-363del	ENSP00000425330.1:n.*415-363del
ENST00000513117.1:c.294-4599del	ENSP00000421342.1:n.294-4599del
NM_001047.2:c.294-363del	NP_001038.1:n.294-363del
XM_011514103.1:c.320-4599del	XP_011512405.1:n.320-4599del
NM_001047.3:c.294-363del	NP_001038.1:n.294-363del
NM_001324322.1:c.320-4599del	NP_001311251.1:n.320-4599del
NM_001324323.1:c.75-363del	NP_001311252.1:n.75-363del
NR_136739.1:n.549-363del
NM_001047.4:c.294-363del MANE Select	NP_001038.1:n.294-363del
NM_001324322.2:c.320-4599del	NP_001311251.1:n.320-4599del
NM_001324323.2:c.75-363del	NP_001311252.1:n.75-363del
NR_136739.2:n.431-363del