Canonical Allele Identifier: CA1950150411

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848115775
• gnomAD v4: 11-6394749-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394752_6394754del , CM000673.2:g.6394752_6394754del	GRCh38
NC_000011.9:g.6415982_6415984del , CM000673.1:g.6415982_6415984del	GRCh37
NC_000011.8:g.6372558_6372560del	NCBI36
NG_011780.1:g.9328_9330del
NG_029615.1:g.29663_29665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*145_*147del MANE Select	ENSP00000340409.4:n.*145_*147del
ENST00000342245.8:c.*145_*147del	ENSP00000340409.4:n.*145_*147del
ENST00000526280.1:c.1098_1100del
ENST00000527275.5:c.*145_*147del	ENSP00000435350.1:n.*145_*147del
ENST00000531303.5:c.*892_*894del	ENSP00000432625.1:n.*892_*894del
ENST00000533123.5:c.*768_*770del	ENSP00000435950.1:n.*768_*770del
ENST00000534405.5:c.*872_*874del	ENSP00000434353.1:n.*872_*874del
NM_000543.4:c.*145_*147del	NP_000534.3:n.*145_*147del
NM_001007593.2:c.*145_*147del	NP_001007594.2:n.*145_*147del
XM_011520303.1:c.*145_*147del	XP_011518605.1:n.*145_*147del
NM_001318087.1:c.*534_*536del	NP_001305016.1:n.*534_*536del
NM_001318088.1:c.*145_*147del	NP_001305017.1:n.*145_*147del
NM_001365135.1:c.*145_*147del	NP_001352064.1:n.*145_*147del
NR_027400.2:n.2054_2056del
NR_134502.1:n.1593_1595del
XR_001747940.2:n.2226_2228del
XR_002957158.1:n.2408_2410del
NM_000543.5:c.*145_*147del MANE Select	NP_000534.3:n.*145_*147del
NM_001007593.3:c.*145_*147del	NP_001007594.2:n.*145_*147del
NM_001318087.2:c.*534_*536del	NP_001305016.1:n.*534_*536del
NM_001318088.2:c.*145_*147del	NP_001305017.1:n.*145_*147del
NM_001365135.2:c.*145_*147del	NP_001352064.1:n.*145_*147del
NR_027400.3:n.1994_1996del
NR_134502.2:n.1533_1535del