Canonical Allele Identifier: CA113771995

Gene: SRD5A1

Linked Data

• dbSNP Id: rs756367844
• gnomAD v3: 5-6651498-T-TAAC
• gnomAD v4: 5-6651498-T-TAAC
• MyVariant Identifiers: chr5:g.6651611_6651612insAAC (hg19) ; chr5:g.6651498_6651499insAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651500_6651501insCAA , CM000667.2:g.6651500_6651501insCAA	GRCh38
NC_000005.9:g.6651613_6651614insCAA , CM000667.1:g.6651613_6651614insCAA	GRCh37
NC_000005.8:g.6704613_6704614insCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-342_294-341insCAA	ENSP00000518753.1:n.294-342_294-341insCAA
ENST00000510531.6:c.*415-342_*415-341insCAA	ENSP00000425330.1:n.*415-342_*415-341insCAA
ENST00000274192.7:c.294-342_294-341insCAA MANE Select	ENSP00000274192.5:n.294-342_294-341insCAA
ENST00000274192.6:c.294-342_294-341insCAA	ENSP00000274192.5:n.294-342_294-341insCAA
ENST00000504286.1:n.415-342_415-341insCAA
ENST00000510531.5:c.*415-342_*415-341insCAA	ENSP00000425330.1:n.*415-342_*415-341insCAA
ENST00000513117.1:c.294-4578_294-4577insCAA	ENSP00000421342.1:n.294-4578_294-4577insCAA
NM_001047.2:c.294-342_294-341insCAA	NP_001038.1:n.294-342_294-341insCAA
XM_011514103.1:c.320-4578_320-4577insCAA	XP_011512405.1:n.320-4578_320-4577insCAA
NM_001047.3:c.294-342_294-341insCAA	NP_001038.1:n.294-342_294-341insCAA
NM_001324322.1:c.320-4578_320-4577insCAA	NP_001311251.1:n.320-4578_320-4577insCAA
NM_001324323.1:c.75-342_75-341insCAA	NP_001311252.1:n.75-342_75-341insCAA
NR_136739.1:n.549-342_549-341insCAA
NM_001047.4:c.294-342_294-341insCAA MANE Select	NP_001038.1:n.294-342_294-341insCAA
NM_001324322.2:c.320-4578_320-4577insCAA	NP_001311251.1:n.320-4578_320-4577insCAA
NM_001324323.2:c.75-342_75-341insCAA	NP_001311252.1:n.75-342_75-341insCAA
NR_136739.2:n.431-342_431-341insCAA