Canonical Allele Identifier: CA2790302471

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392313_6392314del , CM000673.2:g.6392313_6392314del	GRCh38
NC_000011.9:g.6413543_6413544del , CM000673.1:g.6413543_6413544del	GRCh37
NC_000011.8:g.6370119_6370120del	NCBI36
NG_011780.1:g.6889_6890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+157_1091+158del MANE Select	ENSP00000340409.4:n.1091+157_1091+158del
ENST00000342245.8:c.1091+157_1091+158del	ENSP00000340409.4:n.1091+157_1091+158del
ENST00000526280.1:c.320+117_320+118del
ENST00000527275.5:c.1088+157_1088+158del	ENSP00000435350.1:n.1088+157_1088+158del
ENST00000531303.5:c.438+810_438+811del	ENSP00000432625.1:n.438+810_438+811del
ENST00000533123.5:c.1091+157_1091+158del	ENSP00000435950.1:n.1091+157_1091+158del
ENST00000534405.5:c.1131+117_1131+118del	ENSP00000434353.1:n.1131+117_1131+118del
NM_000543.4:c.1091+157_1091+158del	NP_000534.3:n.1091+157_1091+158del
NM_001007593.2:c.1088+157_1088+158del	NP_001007594.2:n.1088+157_1088+158del
XM_005253075.3:c.1091+157_1091+158del	XP_005253132.1:n.1091+157_1091+158del
XM_011520303.1:c.1131+117_1131+118del	XP_011518605.1:n.1131+117_1131+118del
XM_011520304.1:c.1131+117_1131+118del	XP_011518606.1:n.1131+117_1131+118del
XR_930886.1:n.1429+117_1429+118del
NM_001318087.1:c.1091+157_1091+158del	NP_001305016.1:n.1091+157_1091+158del
NM_001318088.1:c.170+117_170+118del	NP_001305017.1:n.170+117_170+118del
NM_001365135.1:c.1131+117_1131+118del	NP_001352064.1:n.1131+117_1131+118del
NR_027400.2:n.1276+157_1276+158del
NR_134502.1:n.623+810_623+811del
XM_011520304.2:c.1131+117_1131+118del	XP_011518606.1:n.1131+117_1131+118del
XR_001747940.2:n.1256+117_1256+118del
XR_002957158.1:n.1256+117_1256+118del
NM_000543.5:c.1091+157_1091+158del MANE Select	NP_000534.3:n.1091+157_1091+158del
NM_001007593.3:c.1088+157_1088+158del	NP_001007594.2:n.1088+157_1088+158del
NM_001318087.2:c.1091+157_1091+158del	NP_001305016.1:n.1091+157_1091+158del
NM_001318088.2:c.170+117_170+118del	NP_001305017.1:n.170+117_170+118del
NM_001365135.2:c.1131+117_1131+118del	NP_001352064.1:n.1131+117_1131+118del
NR_027400.3:n.1216+157_1216+158del
NR_134502.2:n.563+810_563+811del