Canonical Allele Identifier: CA2517948568

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392521_6392524del , CM000673.2:g.6392521_6392524del	GRCh38
NC_000011.9:g.6413751_6413754del , CM000673.1:g.6413751_6413754del	GRCh37
NC_000011.8:g.6370327_6370330del	NCBI36
NG_011780.1:g.7097_7100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+365_1091+368del MANE Select	ENSP00000340409.4:n.1091+365_1091+368del
ENST00000342245.8:c.1091+365_1091+368del	ENSP00000340409.4:n.1091+365_1091+368del
ENST00000526280.1:c.320+325_320+328del
ENST00000527275.5:c.1088+365_1088+368del	ENSP00000435350.1:n.1088+365_1088+368del
ENST00000531303.5:c.439-695_439-692del	ENSP00000432625.1:n.439-695_439-692del
ENST00000533123.5:c.1091+365_1091+368del	ENSP00000435950.1:n.1091+365_1091+368del
ENST00000534405.5:c.1131+325_1131+328del	ENSP00000434353.1:n.1131+325_1131+328del
NM_000543.4:c.1091+365_1091+368del	NP_000534.3:n.1091+365_1091+368del
NM_001007593.2:c.1088+365_1088+368del	NP_001007594.2:n.1088+365_1088+368del
XM_005253075.3:c.1091+365_1091+368del	XP_005253132.1:n.1091+365_1091+368del
XM_011520303.1:c.1131+325_1131+328del	XP_011518605.1:n.1131+325_1131+328del
XM_011520304.1:c.1131+325_1131+328del	XP_011518606.1:n.1131+325_1131+328del
XR_930886.1:n.1429+325_1429+328del
NM_001318087.1:c.1091+365_1091+368del	NP_001305016.1:n.1091+365_1091+368del
NM_001318088.1:c.170+325_170+328del	NP_001305017.1:n.170+325_170+328del
NM_001365135.1:c.1131+325_1131+328del	NP_001352064.1:n.1131+325_1131+328del
NR_027400.2:n.1276+365_1276+368del
NR_134502.1:n.624-695_624-692del
XM_011520304.2:c.1131+325_1131+328del	XP_011518606.1:n.1131+325_1131+328del
XR_001747940.2:n.1256+325_1256+328del
XR_002957158.1:n.1256+325_1256+328del
NM_000543.5:c.1091+365_1091+368del MANE Select	NP_000534.3:n.1091+365_1091+368del
NM_001007593.3:c.1088+365_1088+368del	NP_001007594.2:n.1088+365_1088+368del
NM_001318087.2:c.1091+365_1091+368del	NP_001305016.1:n.1091+365_1091+368del
NM_001318088.2:c.170+325_170+328del	NP_001305017.1:n.170+325_170+328del
NM_001365135.2:c.1131+325_1131+328del	NP_001352064.1:n.1131+325_1131+328del
NR_027400.3:n.1216+365_1216+368del
NR_134502.2:n.564-695_564-692del