Canonical Allele Identifier: CA934768343

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847979363
• gnomAD v3: 11-6392513-TTTGA-T
• gnomAD v4: 11-6392513-TTTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392514_6392517del , CM000673.2:g.6392514_6392517del	GRCh38
NC_000011.9:g.6413744_6413747del , CM000673.1:g.6413744_6413747del	GRCh37
NC_000011.8:g.6370320_6370323del	NCBI36
NG_011780.1:g.7090_7093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+358_1091+361del MANE Select	ENSP00000340409.4:n.1091+358_1091+361del
ENST00000342245.8:c.1091+358_1091+361del	ENSP00000340409.4:n.1091+358_1091+361del
ENST00000526280.1:c.320+318_320+321del
ENST00000527275.5:c.1088+358_1088+361del	ENSP00000435350.1:n.1088+358_1088+361del
ENST00000531303.5:c.439-702_439-699del	ENSP00000432625.1:n.439-702_439-699del
ENST00000533123.5:c.1091+358_1091+361del	ENSP00000435950.1:n.1091+358_1091+361del
ENST00000534405.5:c.1131+318_1131+321del	ENSP00000434353.1:n.1131+318_1131+321del
NM_000543.4:c.1091+358_1091+361del	NP_000534.3:n.1091+358_1091+361del
NM_001007593.2:c.1088+358_1088+361del	NP_001007594.2:n.1088+358_1088+361del
XM_005253075.3:c.1091+358_1091+361del	XP_005253132.1:n.1091+358_1091+361del
XM_011520303.1:c.1131+318_1131+321del	XP_011518605.1:n.1131+318_1131+321del
XM_011520304.1:c.1131+318_1131+321del	XP_011518606.1:n.1131+318_1131+321del
XR_930886.1:n.1429+318_1429+321del
NM_001318087.1:c.1091+358_1091+361del	NP_001305016.1:n.1091+358_1091+361del
NM_001318088.1:c.170+318_170+321del	NP_001305017.1:n.170+318_170+321del
NM_001365135.1:c.1131+318_1131+321del	NP_001352064.1:n.1131+318_1131+321del
NR_027400.2:n.1276+358_1276+361del
NR_134502.1:n.624-702_624-699del
XM_011520304.2:c.1131+318_1131+321del	XP_011518606.1:n.1131+318_1131+321del
XR_001747940.2:n.1256+318_1256+321del
XR_002957158.1:n.1256+318_1256+321del
NM_000543.5:c.1091+358_1091+361del MANE Select	NP_000534.3:n.1091+358_1091+361del
NM_001007593.3:c.1088+358_1088+361del	NP_001007594.2:n.1088+358_1088+361del
NM_001318087.2:c.1091+358_1091+361del	NP_001305016.1:n.1091+358_1091+361del
NM_001318088.2:c.170+318_170+321del	NP_001305017.1:n.170+318_170+321del
NM_001365135.2:c.1131+318_1131+321del	NP_001352064.1:n.1131+318_1131+321del
NR_027400.3:n.1216+358_1216+361del
NR_134502.2:n.564-702_564-699del