Canonical Allele Identifier: CA2612224256

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394767-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394770del , CM000673.2:g.6394770del	GRCh38
NC_000011.9:g.6416000del , CM000673.1:g.6416000del	GRCh37
NC_000011.8:g.6372576del	NCBI36
NG_011780.1:g.9346del
NG_029615.1:g.29647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*163del MANE Select	ENSP00000340409.4:n.*163del
ENST00000342245.8:c.*163del	ENSP00000340409.4:n.*163del
ENST00000526280.1:c.1116del
ENST00000527275.5:c.*163del	ENSP00000435350.1:n.*163del
ENST00000531303.5:c.*910del	ENSP00000432625.1:n.*910del
ENST00000533123.5:c.*786del	ENSP00000435950.1:n.*786del
ENST00000534405.5:c.*890del	ENSP00000434353.1:n.*890del
NM_000543.4:c.*163del	NP_000534.3:n.*163del
NM_001007593.2:c.*163del	NP_001007594.2:n.*163del
XM_011520303.1:c.*163del	XP_011518605.1:n.*163del
NM_001318087.1:c.*552del	NP_001305016.1:n.*552del
NM_001318088.1:c.*163del	NP_001305017.1:n.*163del
NM_001365135.1:c.*163del	NP_001352064.1:n.*163del
NR_027400.2:n.2072del
NR_134502.1:n.1611del
XR_001747940.2:n.2244del
XR_002957158.1:n.2426del
NM_000543.5:c.*163del MANE Select	NP_000534.3:n.*163del
NM_001007593.3:c.*163del	NP_001007594.2:n.*163del
NM_001318087.2:c.*552del	NP_001305016.1:n.*552del
NM_001318088.2:c.*163del	NP_001305017.1:n.*163del
NM_001365135.2:c.*163del	NP_001352064.1:n.*163del
NR_027400.3:n.2012del
NR_134502.2:n.1551del