Canonical Allele Identifier: CA2673164876

Gene: SRD5A1

Linked Data

• gnomAD v4: 5-6651784-TACAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651786_6651789del , CM000667.2:g.6651786_6651789del	GRCh38
NC_000005.9:g.6651899_6651902del , CM000667.1:g.6651899_6651902del	GRCh37
NC_000005.8:g.6704899_6704902del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000504286.2:c.294-56_294-53del	ENSP00000518753.1:n.294-56_294-53del
ENST00000510531.6:c.*415-56_*415-53del	ENSP00000425330.1:n.*415-56_*415-53del
ENST00000274192.7:c.294-56_294-53del MANE Select	ENSP00000274192.5:n.294-56_294-53del
ENST00000274192.6:c.294-56_294-53del	ENSP00000274192.5:n.294-56_294-53del
ENST00000504286.1:n.415-56_415-53del
ENST00000510531.5:c.*415-56_*415-53del	ENSP00000425330.1:n.*415-56_*415-53del
ENST00000513117.1:c.294-4292_294-4289del	ENSP00000421342.1:n.294-4292_294-4289del
NM_001047.2:c.294-56_294-53del	NP_001038.1:n.294-56_294-53del
XM_011514103.1:c.320-4292_320-4289del	XP_011512405.1:n.320-4292_320-4289del
NM_001047.3:c.294-56_294-53del	NP_001038.1:n.294-56_294-53del
NM_001324322.1:c.320-4292_320-4289del	NP_001311251.1:n.320-4292_320-4289del
NM_001324323.1:c.75-56_75-53del	NP_001311252.1:n.75-56_75-53del
NR_136739.1:n.549-56_549-53del
NM_001047.4:c.294-56_294-53del MANE Select	NP_001038.1:n.294-56_294-53del
NM_001324322.2:c.320-4292_320-4289del	NP_001311251.1:n.320-4292_320-4289del
NM_001324323.2:c.75-56_75-53del	NP_001311252.1:n.75-56_75-53del
NR_136739.2:n.431-56_431-53del