Canonical Allele Identifier: CA2612222248

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391765-GGCCTGCCGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391768_6391778del , CM000673.2:g.6391768_6391778del	GRCh38
NC_000011.9:g.6412998_6413008del , CM000673.1:g.6412998_6413008del	GRCh37
NC_000011.8:g.6369574_6369584del	NCBI36
NG_011780.1:g.6344_6354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.703_713del MANE Select	ENSP00000340409.4:p.Leu235IlefsTer15
ENST00000342245.8:c.703_713del	ENSP00000340409.4:p.Leu235IlefsTer15
ENST00000527275.5:c.700_710del	ENSP00000435350.1:p.Leu234IlefsTer15
ENST00000530395.1:c.-95-22_-95-12del	ENSP00000431479.1:n.-95-22_-95-12del
ENST00000531303.5:c.438+265_438+275del	ENSP00000432625.1:n.438+265_438+275del
ENST00000533123.5:c.703_713del	ENSP00000435950.1:p.Leu235IlefsTer15
ENST00000533196.1:n.375-238_375-228del
ENST00000534405.5:c.703_713del	ENSP00000434353.1:p.Leu235IlefsTer15
NM_000543.4:c.703_713del	NP_000534.3:p.Leu235IlefsTer15
NM_001007593.2:c.700_710del	NP_001007594.2:p.Leu234IlefsTer15
XM_005253075.3:c.703_713del	XP_005253132.1:p.Leu235IlefsTer15
XM_011520303.1:c.703_713del	XP_011518605.1:p.Leu235IlefsTer15
XM_011520304.1:c.703_713del	XP_011518606.1:p.Leu235IlefsTer15
XR_930886.1:n.1001_1011del
NM_001318087.1:c.703_713del	NP_001305016.1:p.Leu235IlefsTer15
NM_001318088.1:c.-259_-249del	NP_001305017.1:n.-259_-249del
NM_001365135.1:c.703_713del	NP_001352064.1:p.Leu235IlefsTer15
NR_027400.2:n.888_898del
NR_134502.1:n.623+265_623+275del
XM_011520304.2:c.703_713del	XP_011518606.1:p.Leu235IlefsTer15
XR_001747940.2:n.828_838del
XR_002957158.1:n.828_838del
NM_000543.5:c.703_713del MANE Select	NP_000534.3:p.Leu235IlefsTer15
NM_001007593.3:c.700_710del	NP_001007594.2:p.Leu234IlefsTer15
NM_001318087.2:c.703_713del	NP_001305016.1:p.Leu235IlefsTer15
NM_001318088.2:c.-259_-249del	NP_001305017.1:n.-259_-249del
NM_001365135.2:c.703_713del	NP_001352064.1:p.Leu235IlefsTer15
NR_027400.3:n.828_838del
NR_134502.2:n.563+265_563+275del