Canonical Allele Identifier: CA2612222817

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393215-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393216_6393217del , CM000673.2:g.6393216_6393217del	GRCh38
NC_000011.9:g.6414446_6414447del , CM000673.1:g.6414446_6414447del	GRCh37
NC_000011.8:g.6371022_6371023del	NCBI36
NG_011780.1:g.7792_7793del
NG_029615.1:g.31198_31199del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092_1093del MANE Select	ENSP00000340409.4:p.Arg364SerfsTer26
ENST00000342245.8:c.1092_1093del	ENSP00000340409.4:p.Arg364SerfsTer26
ENST00000526280.1:c.321-401_321-400del
ENST00000527275.5:c.1089_1090del	ENSP00000435350.1:p.Arg363SerfsTer26
ENST00000531303.5:c.439_440del	ENSP00000432625.1:p.Asn147LeufsTer20
ENST00000533123.5:c.1092-401_1092-400del	ENSP00000435950.1:n.1092-401_1092-400del
ENST00000534405.5:c.1132_1133del	ENSP00000434353.1:p.Asn378LeufsTer20
NM_000543.4:c.1092_1093del	NP_000534.3:p.Arg364SerfsTer26
NM_001007593.2:c.1089_1090del	NP_001007594.2:p.Arg363SerfsTer26
XM_005253075.3:c.1092_1093del	XP_005253132.1:p.Arg364SerfsTer26
XM_011520303.1:c.1132-401_1132-400del	XP_011518605.1:n.1132-401_1132-400del
XM_011520304.1:c.1132-401_1132-400del	XP_011518606.1:n.1132-401_1132-400del
XR_930886.1:n.1430_1431del
NM_001318087.1:c.1092_1093del	NP_001305016.1:p.Arg364SerfsTer26
NM_001318088.1:c.171_172del	NP_001305017.1:p.Arg57SerfsTer26
NM_001365135.1:c.1132-401_1132-400del	NP_001352064.1:n.1132-401_1132-400del
NR_027400.2:n.1277-401_1277-400del
NR_134502.1:n.624_625del
XM_011520304.2:c.1132-401_1132-400del	XP_011518606.1:n.1132-401_1132-400del
XR_001747940.2:n.1257_1258del
XR_002957158.1:n.1257_1258del
NM_000543.5:c.1092_1093del MANE Select	NP_000534.3:p.Arg364SerfsTer26
NM_001007593.3:c.1089_1090del	NP_001007594.2:p.Arg363SerfsTer26
NM_001318087.2:c.1092_1093del	NP_001305016.1:p.Arg364SerfsTer26
NM_001318088.2:c.171_172del	NP_001305017.1:p.Arg57SerfsTer26
NM_001365135.2:c.1132-401_1132-400del	NP_001352064.1:n.1132-401_1132-400del
NR_027400.3:n.1217-401_1217-400del
NR_134502.2:n.564_565del