Canonical Allele Identifier: CA2612223291

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393654-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393655del , CM000673.2:g.6393655del	GRCh38
NC_000011.9:g.6414885del , CM000673.1:g.6414885del	GRCh37
NC_000011.8:g.6371461del	NCBI36
NG_011780.1:g.8231del
NG_029615.1:g.30760del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1302del MANE Select	ENSP00000340409.4:p.Lys435ArgfsTer11
ENST00000342245.8:c.1302del	ENSP00000340409.4:p.Lys435ArgfsTer11
ENST00000526280.1:c.359del
ENST00000527275.5:c.1299del	ENSP00000435350.1:p.Lys434ArgfsTer11
ENST00000531303.5:c.*133del	ENSP00000432625.1:n.*133del
ENST00000531336.1:n.134del
ENST00000532367.1:n.138del
ENST00000533123.5:c.*29del	ENSP00000435950.1:n.*29del
ENST00000534405.5:c.*133del	ENSP00000434353.1:n.*133del
NM_000543.4:c.1302del	NP_000534.3:p.Lys435ArgfsTer11
NM_001007593.2:c.1299del	NP_001007594.2:p.Lys434ArgfsTer11
XM_005253075.3:c.1302del	XP_005253132.1:p.Lys435ArgfsTer11
XM_011520303.1:c.1170del	XP_011518605.1:p.Lys391ArgfsTer11
XM_011520304.1:c.1170del	XP_011518606.1:p.Lys391ArgfsTer11
XR_930886.1:n.1640del
NM_001318087.1:c.1302del	NP_001305016.1:p.Lys435ArgfsTer11
NM_001318088.1:c.381del	NP_001305017.1:p.Lys128ArgfsTer11
NM_001365135.1:c.1170del	NP_001352064.1:p.Lys391ArgfsTer11
NR_027400.2:n.1315del
NR_134502.1:n.834del
XM_011520304.2:c.1170del	XP_011518606.1:p.Lys391ArgfsTer11
XR_001747940.2:n.1467del
XR_002957158.1:n.1467del
NM_000543.5:c.1302del MANE Select	NP_000534.3:p.Lys435ArgfsTer11
NM_001007593.3:c.1299del	NP_001007594.2:p.Lys434ArgfsTer11
NM_001318087.2:c.1302del	NP_001305016.1:p.Lys435ArgfsTer11
NM_001318088.2:c.381del	NP_001305017.1:p.Lys128ArgfsTer11
NM_001365135.2:c.1170del	NP_001352064.1:p.Lys391ArgfsTer11
NR_027400.3:n.1255del
NR_134502.2:n.774del