Canonical Allele Identifier: CA2612224344

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394836-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394839del , CM000673.2:g.6394839del	GRCh38
NC_000011.9:g.6416069del , CM000673.1:g.6416069del	GRCh37
NC_000011.8:g.6372645del	NCBI36
NG_011780.1:g.9415del
NG_029615.1:g.29578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*232del MANE Select	ENSP00000340409.4:n.*232del
ENST00000342245.8:c.*232del	ENSP00000340409.4:n.*232del
ENST00000526280.1:c.1185del
ENST00000533123.5:c.*855del	ENSP00000435950.1:n.*855del
ENST00000534405.5:c.*959del	ENSP00000434353.1:n.*959del
NM_000543.4:c.*232del	NP_000534.3:n.*232del
NM_001007593.2:c.*232del	NP_001007594.2:n.*232del
XM_011520303.1:c.*232del	XP_011518605.1:n.*232del
NM_001318087.1:c.*621del	NP_001305016.1:n.*621del
NM_001318088.1:c.*232del	NP_001305017.1:n.*232del
NM_001365135.1:c.*232del	NP_001352064.1:n.*232del
NR_027400.2:n.2141del
NR_134502.1:n.1680del
XR_001747940.2:n.2313del
XR_002957158.1:n.2495del
NM_000543.5:c.*232del MANE Select	NP_000534.3:n.*232del
NM_001007593.3:c.*232del	NP_001007594.2:n.*232del
NM_001318087.2:c.*621del	NP_001305016.1:n.*621del
NM_001318088.2:c.*232del	NP_001305017.1:n.*232del
NM_001365135.2:c.*232del	NP_001352064.1:n.*232del
NR_027400.3:n.2081del
NR_134502.2:n.1620del