Canonical Allele Identifier: CA1950146985

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392484_6392487delinsCCCT , CM000673.2:g.6392484_6392487delinsCCCT	GRCh38
NC_000011.9:g.6413714_6413717delinsCCCT , CM000673.1:g.6413714_6413717delinsCCCT	GRCh37
NC_000011.8:g.6370290_6370293delinsCCCT	NCBI36
NG_011780.1:g.7060_7063delinsCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+328_1091+331delinsCCCT MANE Select	ENSP00000340409.4:n.1091+328_1091+331delinsCCCT
ENST00000342245.8:c.1091+328_1091+331delinsCCCT	ENSP00000340409.4:n.1091+328_1091+331delinsCCCT
ENST00000526280.1:c.320+288_320+291delinsCCCT
ENST00000527275.5:c.1088+328_1088+331delinsCCCT	ENSP00000435350.1:n.1088+328_1088+331delinsCCCT
ENST00000531303.5:c.439-732_439-729delinsCCCT	ENSP00000432625.1:n.439-732_439-729delinsCCCT
ENST00000533123.5:c.1091+328_1091+331delinsCCCT	ENSP00000435950.1:n.1091+328_1091+331delinsCCCT
ENST00000534405.5:c.1131+288_1131+291delinsCCCT	ENSP00000434353.1:n.1131+288_1131+291delinsCCCT
NM_000543.4:c.1091+328_1091+331delinsCCCT	NP_000534.3:n.1091+328_1091+331delinsCCCT
NM_001007593.2:c.1088+328_1088+331delinsCCCT	NP_001007594.2:n.1088+328_1088+331delinsCCCT
XM_005253075.3:c.1091+328_1091+331delinsCCCT	XP_005253132.1:n.1091+328_1091+331delinsCCCT
XM_011520303.1:c.1131+288_1131+291delinsCCCT	XP_011518605.1:n.1131+288_1131+291delinsCCCT
XM_011520304.1:c.1131+288_1131+291delinsCCCT	XP_011518606.1:n.1131+288_1131+291delinsCCCT
XR_930886.1:n.1429+288_1429+291delinsCCCT
NM_001318087.1:c.1091+328_1091+331delinsCCCT	NP_001305016.1:n.1091+328_1091+331delinsCCCT
NM_001318088.1:c.170+288_170+291delinsCCCT	NP_001305017.1:n.170+288_170+291delinsCCCT
NM_001365135.1:c.1131+288_1131+291delinsCCCT	NP_001352064.1:n.1131+288_1131+291delinsCCCT
NR_027400.2:n.1276+328_1276+331delinsCCCT
NR_134502.1:n.624-732_624-729delinsCCCT
XM_011520304.2:c.1131+288_1131+291delinsCCCT	XP_011518606.1:n.1131+288_1131+291delinsCCCT
XR_001747940.2:n.1256+288_1256+291delinsCCCT
XR_002957158.1:n.1256+288_1256+291delinsCCCT
NM_000543.5:c.1091+328_1091+331delinsCCCT MANE Select	NP_000534.3:n.1091+328_1091+331delinsCCCT
NM_001007593.3:c.1088+328_1088+331delinsCCCT	NP_001007594.2:n.1088+328_1088+331delinsCCCT
NM_001318087.2:c.1091+328_1091+331delinsCCCT	NP_001305016.1:n.1091+328_1091+331delinsCCCT
NM_001318088.2:c.170+288_170+291delinsCCCT	NP_001305017.1:n.170+288_170+291delinsCCCT
NM_001365135.2:c.1131+288_1131+291delinsCCCT	NP_001352064.1:n.1131+288_1131+291delinsCCCT
NR_027400.3:n.1216+328_1216+331delinsCCCT
NR_134502.2:n.564-732_564-729delinsCCCT