Canonical Allele Identifier: CA2695213131

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393930del , CM000673.2:g.6393930del	GRCh38
NC_000011.9:g.6415160del , CM000673.1:g.6415160del	GRCh37
NC_000011.8:g.6371736del	NCBI36
NG_011780.1:g.8506del
NG_029615.1:g.30486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1375del MANE Select	ENSP00000340409.4:p.His459ThrfsTer16
ENST00000342245.8:c.1375del	ENSP00000340409.4:p.His459ThrfsTer16
ENST00000526280.1:c.432del
ENST00000527275.5:c.1372del	ENSP00000435350.1:p.His458ThrfsTer16
ENST00000531303.5:c.*206del	ENSP00000432625.1:n.*206del
ENST00000531336.1:n.207del
ENST00000532367.1:n.211del
ENST00000533123.5:c.*102del	ENSP00000435950.1:n.*102del
ENST00000534405.5:c.*206del	ENSP00000434353.1:n.*206del
NM_000543.4:c.1375del	NP_000534.3:p.His459ThrfsTer16
NM_001007593.2:c.1372del	NP_001007594.2:p.His458ThrfsTer16
XM_005253075.3:c.1375del	XP_005253132.1:p.His459ThrfsTer16
XM_011520303.1:c.1243del	XP_011518605.1:p.His415ThrfsTer16
XM_011520304.1:c.1243del	XP_011518606.1:p.His415ThrfsTer16
XR_930886.1:n.1713del
NM_001318087.1:c.1375del	NP_001305016.1:p.His459ThrfsTer16
NM_001318088.1:c.454del	NP_001305017.1:p.His152ThrfsTer16
NM_001365135.1:c.1243del	NP_001352064.1:p.His415ThrfsTer16
NR_027400.2:n.1388del
NR_134502.1:n.907del
XM_011520304.2:c.1243del	XP_011518606.1:p.His415ThrfsTer16
XR_001747940.2:n.1540del
XR_002957158.1:n.1742del
NM_000543.5:c.1375del MANE Select	NP_000534.3:p.His459ThrfsTer16
NM_001007593.3:c.1372del	NP_001007594.2:p.His458ThrfsTer16
NM_001318087.2:c.1375del	NP_001305016.1:p.His459ThrfsTer16
NM_001318088.2:c.454del	NP_001305017.1:p.His152ThrfsTer16
NM_001365135.2:c.1243del	NP_001352064.1:p.His415ThrfsTer16
NR_027400.3:n.1328del
NR_134502.2:n.847del