Canonical Allele Identifier: CA2527300640

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394784-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394789del , CM000673.2:g.6394789del	GRCh38
NC_000011.9:g.6416019del , CM000673.1:g.6416019del	GRCh37
NC_000011.8:g.6372595del	NCBI36
NG_011780.1:g.9365del
NG_029615.1:g.29630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*182del MANE Select	ENSP00000340409.4:n.*182del
ENST00000342245.8:c.*182del	ENSP00000340409.4:n.*182del
ENST00000526280.1:c.1135del
ENST00000533123.5:c.*805del	ENSP00000435950.1:n.*805del
ENST00000534405.5:c.*909del	ENSP00000434353.1:n.*909del
NM_000543.4:c.*182del	NP_000534.3:n.*182del
NM_001007593.2:c.*182del	NP_001007594.2:n.*182del
XM_011520303.1:c.*182del	XP_011518605.1:n.*182del
NM_001318087.1:c.*571del	NP_001305016.1:n.*571del
NM_001318088.1:c.*182del	NP_001305017.1:n.*182del
NM_001365135.1:c.*182del	NP_001352064.1:n.*182del
NR_027400.2:n.2091del
NR_134502.1:n.1630del
XR_001747940.2:n.2263del
XR_002957158.1:n.2445del
NM_000543.5:c.*182del MANE Select	NP_000534.3:n.*182del
NM_001007593.3:c.*182del	NP_001007594.2:n.*182del
NM_001318087.2:c.*571del	NP_001305016.1:n.*571del
NM_001318088.2:c.*182del	NP_001305017.1:n.*182del
NM_001365135.2:c.*182del	NP_001352064.1:n.*182del
NR_027400.3:n.2031del
NR_134502.2:n.1570del