Canonical Allele Identifier: CA2612224141

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394623-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394626del , CM000673.2:g.6394626del	GRCh38
NC_000011.9:g.6415856del , CM000673.1:g.6415856del	GRCh37
NC_000011.8:g.6372432del	NCBI36
NG_011780.1:g.9202del
NG_029615.1:g.29791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*19del MANE Select	ENSP00000340409.4:n.*19del
ENST00000342245.8:c.*19del	ENSP00000340409.4:n.*19del
ENST00000526280.1:c.972del
ENST00000527275.5:c.*19del	ENSP00000435350.1:n.*19del
ENST00000531303.5:c.*766del	ENSP00000432625.1:n.*766del
ENST00000533123.5:c.*642del	ENSP00000435950.1:n.*642del
ENST00000534405.5:c.*746del	ENSP00000434353.1:n.*746del
NM_000543.4:c.*19del	NP_000534.3:n.*19del
NM_001007593.2:c.*19del	NP_001007594.2:n.*19del
XM_011520303.1:c.*19del	XP_011518605.1:n.*19del
NM_001318087.1:c.*408del	NP_001305016.1:n.*408del
NM_001318088.1:c.*19del	NP_001305017.1:n.*19del
NM_001365135.1:c.*19del	NP_001352064.1:n.*19del
NR_027400.2:n.1928del
NR_134502.1:n.1467del
XR_001747940.2:n.2100del
XR_002957158.1:n.2282del
NM_000543.5:c.*19del MANE Select	NP_000534.3:n.*19del
NM_001007593.3:c.*19del	NP_001007594.2:n.*19del
NM_001318087.2:c.*408del	NP_001305016.1:n.*408del
NM_001318088.2:c.*19del	NP_001305017.1:n.*19del
NM_001365135.2:c.*19del	NP_001352064.1:n.*19del
NR_027400.3:n.1868del
NR_134502.2:n.1407del