Canonical Allele Identifier: CA557622612

Gene: SRD5A1

Linked Data

• dbSNP Id: rs1362178060
• gnomAD v2: 5-6651544-GAAGATCA-G
• gnomAD v3: 5-6651431-GAAGATCA-G
• gnomAD v4: 5-6651431-GAAGATCA-G
• MyVariant Identifiers: chr5:g.6651545_6651551del (hg19) ; chr5:g.6651432_6651438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651432_6651438del , CM000667.2:g.6651432_6651438del	GRCh38
NC_000005.9:g.6651545_6651551del , CM000667.1:g.6651545_6651551del	GRCh37
NC_000005.8:g.6704545_6704551del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-410_294-404del	ENSP00000518753.1:n.294-410_294-404del
ENST00000510531.6:c.*415-410_*415-404del	ENSP00000425330.1:n.*415-410_*415-404del
ENST00000274192.7:c.294-410_294-404del MANE Select	ENSP00000274192.5:n.294-410_294-404del
ENST00000274192.6:c.294-410_294-404del	ENSP00000274192.5:n.294-410_294-404del
ENST00000504286.1:n.415-410_415-404del
ENST00000510531.5:c.*415-410_*415-404del	ENSP00000425330.1:n.*415-410_*415-404del
ENST00000513117.1:c.294-4646_294-4640del	ENSP00000421342.1:n.294-4646_294-4640del
NM_001047.2:c.294-410_294-404del	NP_001038.1:n.294-410_294-404del
XM_011514103.1:c.320-4646_320-4640del	XP_011512405.1:n.320-4646_320-4640del
NM_001047.3:c.294-410_294-404del	NP_001038.1:n.294-410_294-404del
NM_001324322.1:c.320-4646_320-4640del	NP_001311251.1:n.320-4646_320-4640del
NM_001324323.1:c.75-410_75-404del	NP_001311252.1:n.75-410_75-404del
NR_136739.1:n.549-410_549-404del
NM_001047.4:c.294-410_294-404del MANE Select	NP_001038.1:n.294-410_294-404del
NM_001324322.2:c.320-4646_320-4640del	NP_001311251.1:n.320-4646_320-4640del
NM_001324323.2:c.75-410_75-404del	NP_001311252.1:n.75-410_75-404del
NR_136739.2:n.431-410_431-404del