Canonical Allele Identifier: CA113772004

Gene: SRD5A1

Linked Data

• dbSNP Id: rs974221234
• MyVariant Identifiers: chr5:g.6651627_6651628insATG (hg19) ; chr5:g.6651514_6651515insATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651516_6651517insGAT , CM000667.2:g.6651516_6651517insGAT	GRCh38
NC_000005.9:g.6651629_6651630insGAT , CM000667.1:g.6651629_6651630insGAT	GRCh37
NC_000005.8:g.6704629_6704630insGAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-326_294-325insGAT	ENSP00000518753.1:n.294-326_294-325insGAT
ENST00000510531.6:c.*415-326_*415-325insGAT	ENSP00000425330.1:n.*415-326_*415-325insGAT
ENST00000274192.7:c.294-326_294-325insGAT MANE Select	ENSP00000274192.5:n.294-326_294-325insGAT
ENST00000274192.6:c.294-326_294-325insGAT	ENSP00000274192.5:n.294-326_294-325insGAT
ENST00000504286.1:n.415-326_415-325insGAT
ENST00000510531.5:c.*415-326_*415-325insGAT	ENSP00000425330.1:n.*415-326_*415-325insGAT
ENST00000513117.1:c.294-4562_294-4561insGAT	ENSP00000421342.1:n.294-4562_294-4561insGAT
NM_001047.2:c.294-326_294-325insGAT	NP_001038.1:n.294-326_294-325insGAT
XM_011514103.1:c.320-4562_320-4561insGAT	XP_011512405.1:n.320-4562_320-4561insGAT
NM_001047.3:c.294-326_294-325insGAT	NP_001038.1:n.294-326_294-325insGAT
NM_001324322.1:c.320-4562_320-4561insGAT	NP_001311251.1:n.320-4562_320-4561insGAT
NM_001324323.1:c.75-326_75-325insGAT	NP_001311252.1:n.75-326_75-325insGAT
NR_136739.1:n.549-326_549-325insGAT
NM_001047.4:c.294-326_294-325insGAT MANE Select	NP_001038.1:n.294-326_294-325insGAT
NM_001324322.2:c.320-4562_320-4561insGAT	NP_001311251.1:n.320-4562_320-4561insGAT
NM_001324323.2:c.75-326_75-325insGAT	NP_001311252.1:n.75-326_75-325insGAT
NR_136739.2:n.431-326_431-325insGAT