Canonical Allele Identifier: CA359134492

Gene: SRD5A1

Linked Data

• dbSNP Id: rs368166002
• gnomAD v3: 5-6651495-A-AAATAAT
• gnomAD v4: 5-6651495-A-AAATAAT
• MyVariant Identifiers: chr5:g.6651608_6651609insAATAAT (hg19) ; chr5:g.6651495_6651496insAATAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651513_6651518dup , CM000667.2:g.6651513_6651518dup	GRCh38
NC_000005.9:g.6651626_6651631dup , CM000667.1:g.6651626_6651631dup	GRCh37
NC_000005.8:g.6704626_6704631dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-329_294-324dup	ENSP00000518753.1:n.294-329_294-324dup
ENST00000510531.6:c.*415-329_*415-324dup	ENSP00000425330.1:n.*415-329_*415-324dup
ENST00000274192.7:c.294-329_294-324dup MANE Select	ENSP00000274192.5:n.294-329_294-324dup
ENST00000274192.6:c.294-329_294-324dup	ENSP00000274192.5:n.294-329_294-324dup
ENST00000504286.1:n.415-329_415-324dup
ENST00000510531.5:c.*415-329_*415-324dup	ENSP00000425330.1:n.*415-329_*415-324dup
ENST00000513117.1:c.294-4565_294-4560dup	ENSP00000421342.1:n.294-4565_294-4560dup
NM_001047.2:c.294-329_294-324dup	NP_001038.1:n.294-329_294-324dup
XM_011514103.1:c.320-4565_320-4560dup	XP_011512405.1:n.320-4565_320-4560dup
NM_001047.3:c.294-329_294-324dup	NP_001038.1:n.294-329_294-324dup
NM_001324322.1:c.320-4565_320-4560dup	NP_001311251.1:n.320-4565_320-4560dup
NM_001324323.1:c.75-329_75-324dup	NP_001311252.1:n.75-329_75-324dup
NR_136739.1:n.549-329_549-324dup
NM_001047.4:c.294-329_294-324dup MANE Select	NP_001038.1:n.294-329_294-324dup
NM_001324322.2:c.320-4565_320-4560dup	NP_001311251.1:n.320-4565_320-4560dup
NM_001324323.2:c.75-329_75-324dup	NP_001311252.1:n.75-329_75-324dup
NR_136739.2:n.431-329_431-324dup