Canonical Allele Identifier: CA2574738600

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392163_6392165del , CM000673.2:g.6392163_6392165del	GRCh38
NC_000011.9:g.6413393_6413395del , CM000673.1:g.6413393_6413395del	GRCh37
NC_000011.8:g.6369969_6369971del	NCBI36
NG_011780.1:g.6739_6741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+7_1091+9del MANE Select	ENSP00000340409.4:n.1091+7_1091+9del
ENST00000342245.8:c.1091+7_1091+9del	ENSP00000340409.4:n.1091+7_1091+9del
ENST00000526280.1:c.287_289del
ENST00000527275.5:c.1088+7_1088+9del	ENSP00000435350.1:n.1088+7_1088+9del
ENST00000531303.5:c.438+660_438+662del	ENSP00000432625.1:n.438+660_438+662del
ENST00000533123.5:c.1091+7_1091+9del	ENSP00000435950.1:n.1091+7_1091+9del
ENST00000534405.5:c.1098_1100del	ENSP00000434353.1:p.Ser367del
NM_000543.4:c.1091+7_1091+9del	NP_000534.3:n.1091+7_1091+9del
NM_001007593.2:c.1088+7_1088+9del	NP_001007594.2:n.1088+7_1088+9del
XM_005253075.3:c.1091+7_1091+9del	XP_005253132.1:n.1091+7_1091+9del
XM_011520303.1:c.1098_1100del	XP_011518605.1:p.Ser367del
XM_011520304.1:c.1098_1100del	XP_011518606.1:p.Ser367del
XR_930886.1:n.1396_1398del
NM_001318087.1:c.1091+7_1091+9del	NP_001305016.1:n.1091+7_1091+9del
NM_001318088.1:c.137_139del	NP_001305017.1:p.Tyr46_Arg47delinsCys
NM_001365135.1:c.1098_1100del	NP_001352064.1:p.Ser367del
NR_027400.2:n.1276+7_1276+9del
NR_134502.1:n.623+660_623+662del
XM_011520304.2:c.1098_1100del	XP_011518606.1:p.Ser367del
XR_001747940.2:n.1223_1225del
XR_002957158.1:n.1223_1225del
NM_000543.5:c.1091+7_1091+9del MANE Select	NP_000534.3:n.1091+7_1091+9del
NM_001007593.3:c.1088+7_1088+9del	NP_001007594.2:n.1088+7_1088+9del
NM_001318087.2:c.1091+7_1091+9del	NP_001305016.1:n.1091+7_1091+9del
NM_001318088.2:c.137_139del	NP_001305017.1:p.Tyr46_Arg47delinsCys
NM_001365135.2:c.1098_1100del	NP_001352064.1:p.Ser367del
NR_027400.3:n.1216+7_1216+9del
NR_134502.2:n.563+660_563+662del