Canonical Allele Identifier: CA2695213128

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393289del , CM000673.2:g.6393289del	GRCh38
NC_000011.9:g.6414519del , CM000673.1:g.6414519del	GRCh37
NC_000011.8:g.6371095del	NCBI36
NG_011780.1:g.7865del
NG_029615.1:g.31128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1165del MANE Select	ENSP00000340409.4:p.Arg389ValfsTer7
ENST00000342245.8:c.1165del	ENSP00000340409.4:p.Arg389ValfsTer7
ENST00000526280.1:c.321-328del
ENST00000527275.5:c.1162del	ENSP00000435350.1:p.Arg388ValfsTer7
ENST00000531303.5:c.512del	ENSP00000432625.1:p.Pro171ArgfsTer?
ENST00000533123.5:c.1092-328del	ENSP00000435950.1:n.1092-328del
ENST00000534405.5:c.1205del	ENSP00000434353.1:p.Pro402ArgfsTer?
NM_000543.4:c.1165del	NP_000534.3:p.Arg389ValfsTer7
NM_001007593.2:c.1162del	NP_001007594.2:p.Arg388ValfsTer7
XM_005253075.3:c.1165del	XP_005253132.1:p.Arg389ValfsTer7
XM_011520303.1:c.1132-328del	XP_011518605.1:n.1132-328del
XM_011520304.1:c.1132-328del	XP_011518606.1:n.1132-328del
XR_930886.1:n.1503del
NM_001318087.1:c.1165del	NP_001305016.1:p.Arg389ValfsTer7
NM_001318088.1:c.244del	NP_001305017.1:p.Arg82ValfsTer7
NM_001365135.1:c.1132-328del	NP_001352064.1:n.1132-328del
NR_027400.2:n.1277-328del
NR_134502.1:n.697del
XM_011520304.2:c.1132-328del	XP_011518606.1:n.1132-328del
XR_001747940.2:n.1330del
XR_002957158.1:n.1330del
NM_000543.5:c.1165del MANE Select	NP_000534.3:p.Arg389ValfsTer7
NM_001007593.3:c.1162del	NP_001007594.2:p.Arg388ValfsTer7
NM_001318087.2:c.1165del	NP_001305016.1:p.Arg389ValfsTer7
NM_001318088.2:c.244del	NP_001305017.1:p.Arg82ValfsTer7
NM_001365135.2:c.1132-328del	NP_001352064.1:n.1132-328del
NR_027400.3:n.1217-328del
NR_134502.2:n.637del