Canonical Allele Identifier: CA2612224423

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394890-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394891_6394892del , CM000673.2:g.6394891_6394892del	GRCh38
NC_000011.9:g.6416121_6416122del , CM000673.1:g.6416121_6416122del	GRCh37
NC_000011.8:g.6372697_6372698del	NCBI36
NG_011780.1:g.9467_9468del
NG_029615.1:g.29523_29524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*284_*285del MANE Select	ENSP00000340409.4:n.*284_*285del
ENST00000342245.8:c.*284_*285del	ENSP00000340409.4:n.*284_*285del
ENST00000526280.1:c.1237_1238del
ENST00000533123.5:c.*907_*908del	ENSP00000435950.1:n.*907_*908del
ENST00000534405.5:c.*1011_*1012del	ENSP00000434353.1:n.*1011_*1012del
NM_000543.4:c.*284_*285del	NP_000534.3:n.*284_*285del
NM_001007593.2:c.*284_*285del	NP_001007594.2:n.*284_*285del
XM_011520303.1:c.*284_*285del	XP_011518605.1:n.*284_*285del
NM_001318087.1:c.*673_*674del	NP_001305016.1:n.*673_*674del
NM_001318088.1:c.*284_*285del	NP_001305017.1:n.*284_*285del
NM_001365135.1:c.*284_*285del	NP_001352064.1:n.*284_*285del
NR_027400.2:n.2193_2194del
NR_134502.1:n.1732_1733del
XR_001747940.2:n.2365_2366del
XR_002957158.1:n.2547_2548del
NM_000543.5:c.*284_*285del MANE Select	NP_000534.3:n.*284_*285del
NM_001007593.3:c.*284_*285del	NP_001007594.2:n.*284_*285del
NM_001318087.2:c.*673_*674del	NP_001305016.1:n.*673_*674del
NM_001318088.2:c.*284_*285del	NP_001305017.1:n.*284_*285del
NM_001365135.2:c.*284_*285del	NP_001352064.1:n.*284_*285del
NR_027400.3:n.2133_2134del
NR_134502.2:n.1672_1673del