Canonical Allele Identifier: CA918811673

Gene: SMPD1

Linked Data

• dbSNP Id: rs1564924867

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392257_6392261del , CM000673.2:g.6392257_6392261del	GRCh38
NC_000011.9:g.6413487_6413491del , CM000673.1:g.6413487_6413491del	GRCh37
NC_000011.8:g.6370063_6370067del	NCBI36
NG_011780.1:g.6833_6837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+101_1091+105del MANE Select	ENSP00000340409.4:n.1091+101_1091+105del
ENST00000342245.8:c.1091+101_1091+105del	ENSP00000340409.4:n.1091+101_1091+105del
ENST00000526280.1:c.320+61_320+65del
ENST00000527275.5:c.1088+101_1088+105del	ENSP00000435350.1:n.1088+101_1088+105del
ENST00000531303.5:c.438+754_438+758del	ENSP00000432625.1:n.438+754_438+758del
ENST00000533123.5:c.1091+101_1091+105del	ENSP00000435950.1:n.1091+101_1091+105del
ENST00000534405.5:c.1131+61_1131+65del	ENSP00000434353.1:n.1131+61_1131+65del
NM_000543.4:c.1091+101_1091+105del	NP_000534.3:n.1091+101_1091+105del
NM_001007593.2:c.1088+101_1088+105del	NP_001007594.2:n.1088+101_1088+105del
XM_005253075.3:c.1091+101_1091+105del	XP_005253132.1:n.1091+101_1091+105del
XM_011520303.1:c.1131+61_1131+65del	XP_011518605.1:n.1131+61_1131+65del
XM_011520304.1:c.1131+61_1131+65del	XP_011518606.1:n.1131+61_1131+65del
XR_930886.1:n.1429+61_1429+65del
NM_001318087.1:c.1091+101_1091+105del	NP_001305016.1:n.1091+101_1091+105del
NM_001318088.1:c.170+61_170+65del	NP_001305017.1:n.170+61_170+65del
NM_001365135.1:c.1131+61_1131+65del	NP_001352064.1:n.1131+61_1131+65del
NR_027400.2:n.1276+101_1276+105del
NR_134502.1:n.623+754_623+758del
XM_011520304.2:c.1131+61_1131+65del	XP_011518606.1:n.1131+61_1131+65del
XR_001747940.2:n.1256+61_1256+65del
XR_002957158.1:n.1256+61_1256+65del
NM_000543.5:c.1091+101_1091+105del MANE Select	NP_000534.3:n.1091+101_1091+105del
NM_001007593.3:c.1088+101_1088+105del	NP_001007594.2:n.1088+101_1088+105del
NM_001318087.2:c.1091+101_1091+105del	NP_001305016.1:n.1091+101_1091+105del
NM_001318088.2:c.170+61_170+65del	NP_001305017.1:n.170+61_170+65del
NM_001365135.2:c.1131+61_1131+65del	NP_001352064.1:n.1131+61_1131+65del
NR_027400.3:n.1216+101_1216+105del
NR_134502.2:n.563+754_563+758del