Canonical Allele Identifier: CA557622620

Gene: SRD5A1

Linked Data

• dbSNP Id: rs1483650658
• gnomAD v2: 5-6651691-TA-T
• gnomAD v3: 5-6651578-TA-T
• gnomAD v4: 5-6651578-TA-T
• MyVariant Identifiers: chr5:g.6651692del (hg19) ; chr5:g.6651579del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651580del , CM000667.2:g.6651580del	GRCh38
NC_000005.9:g.6651693del , CM000667.1:g.6651693del	GRCh37
NC_000005.8:g.6704693del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-262del	ENSP00000518753.1:n.294-262del
ENST00000510531.6:c.*415-262del	ENSP00000425330.1:n.*415-262del
ENST00000274192.7:c.294-262del MANE Select	ENSP00000274192.5:n.294-262del
ENST00000274192.6:c.294-262del	ENSP00000274192.5:n.294-262del
ENST00000504286.1:n.415-262del
ENST00000510531.5:c.*415-262del	ENSP00000425330.1:n.*415-262del
ENST00000513117.1:c.294-4498del	ENSP00000421342.1:n.294-4498del
NM_001047.2:c.294-262del	NP_001038.1:n.294-262del
XM_011514103.1:c.320-4498del	XP_011512405.1:n.320-4498del
NM_001047.3:c.294-262del	NP_001038.1:n.294-262del
NM_001324322.1:c.320-4498del	NP_001311251.1:n.320-4498del
NM_001324323.1:c.75-262del	NP_001311252.1:n.75-262del
NR_136739.1:n.549-262del
NM_001047.4:c.294-262del MANE Select	NP_001038.1:n.294-262del
NM_001324322.2:c.320-4498del	NP_001311251.1:n.320-4498del
NM_001324323.2:c.75-262del	NP_001311252.1:n.75-262del
NR_136739.2:n.431-262del