Canonical Allele Identifier: CA2612224208

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394717-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394720del , CM000673.2:g.6394720del	GRCh38
NC_000011.9:g.6415950del , CM000673.1:g.6415950del	GRCh37
NC_000011.8:g.6372526del	NCBI36
NG_011780.1:g.9296del
NG_029615.1:g.29697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*113del MANE Select	ENSP00000340409.4:n.*113del
ENST00000342245.8:c.*113del	ENSP00000340409.4:n.*113del
ENST00000526280.1:c.1066del
ENST00000527275.5:c.*113del	ENSP00000435350.1:n.*113del
ENST00000531303.5:c.*860del	ENSP00000432625.1:n.*860del
ENST00000533123.5:c.*736del	ENSP00000435950.1:n.*736del
ENST00000534405.5:c.*840del	ENSP00000434353.1:n.*840del
NM_000543.4:c.*113del	NP_000534.3:n.*113del
NM_001007593.2:c.*113del	NP_001007594.2:n.*113del
XM_011520303.1:c.*113del	XP_011518605.1:n.*113del
NM_001318087.1:c.*502del	NP_001305016.1:n.*502del
NM_001318088.1:c.*113del	NP_001305017.1:n.*113del
NM_001365135.1:c.*113del	NP_001352064.1:n.*113del
NR_027400.2:n.2022del
NR_134502.1:n.1561del
XR_001747940.2:n.2194del
XR_002957158.1:n.2376del
NM_000543.5:c.*113del MANE Select	NP_000534.3:n.*113del
NM_001007593.3:c.*113del	NP_001007594.2:n.*113del
NM_001318087.2:c.*502del	NP_001305016.1:n.*502del
NM_001318088.2:c.*113del	NP_001305017.1:n.*113del
NM_001365135.2:c.*113del	NP_001352064.1:n.*113del
NR_027400.3:n.1962del
NR_134502.2:n.1501del