Canonical Allele Identifier: CA1950146854

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392350_6392352delinsTAG , CM000673.2:g.6392350_6392352delinsTAG	GRCh38
NC_000011.9:g.6413580_6413582delinsTAG , CM000673.1:g.6413580_6413582delinsTAG	GRCh37
NC_000011.8:g.6370156_6370158delinsTAG	NCBI36
NG_011780.1:g.6926_6928delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+194_1091+196delinsTAG MANE Select	ENSP00000340409.4:n.1091+194_1091+196delinsTAG
ENST00000342245.8:c.1091+194_1091+196delinsTAG	ENSP00000340409.4:n.1091+194_1091+196delinsTAG
ENST00000526280.1:c.320+154_320+156delinsTAG
ENST00000527275.5:c.1088+194_1088+196delinsTAG	ENSP00000435350.1:n.1088+194_1088+196delinsTAG
ENST00000531303.5:c.438+847_438+849delinsTAG	ENSP00000432625.1:n.438+847_438+849delinsTAG
ENST00000533123.5:c.1091+194_1091+196delinsTAG	ENSP00000435950.1:n.1091+194_1091+196delinsTAG
ENST00000534405.5:c.1131+154_1131+156delinsTAG	ENSP00000434353.1:n.1131+154_1131+156delinsTAG
NM_000543.4:c.1091+194_1091+196delinsTAG	NP_000534.3:n.1091+194_1091+196delinsTAG
NM_001007593.2:c.1088+194_1088+196delinsTAG	NP_001007594.2:n.1088+194_1088+196delinsTAG
XM_005253075.3:c.1091+194_1091+196delinsTAG	XP_005253132.1:n.1091+194_1091+196delinsTAG
XM_011520303.1:c.1131+154_1131+156delinsTAG	XP_011518605.1:n.1131+154_1131+156delinsTAG
XM_011520304.1:c.1131+154_1131+156delinsTAG	XP_011518606.1:n.1131+154_1131+156delinsTAG
XR_930886.1:n.1429+154_1429+156delinsTAG
NM_001318087.1:c.1091+194_1091+196delinsTAG	NP_001305016.1:n.1091+194_1091+196delinsTAG
NM_001318088.1:c.170+154_170+156delinsTAG	NP_001305017.1:n.170+154_170+156delinsTAG
NM_001365135.1:c.1131+154_1131+156delinsTAG	NP_001352064.1:n.1131+154_1131+156delinsTAG
NR_027400.2:n.1276+194_1276+196delinsTAG
NR_134502.1:n.623+847_623+849delinsTAG
XM_011520304.2:c.1131+154_1131+156delinsTAG	XP_011518606.1:n.1131+154_1131+156delinsTAG
XR_001747940.2:n.1256+154_1256+156delinsTAG
XR_002957158.1:n.1256+154_1256+156delinsTAG
NM_000543.5:c.1091+194_1091+196delinsTAG MANE Select	NP_000534.3:n.1091+194_1091+196delinsTAG
NM_001007593.3:c.1088+194_1088+196delinsTAG	NP_001007594.2:n.1088+194_1088+196delinsTAG
NM_001318087.2:c.1091+194_1091+196delinsTAG	NP_001305016.1:n.1091+194_1091+196delinsTAG
NM_001318088.2:c.170+154_170+156delinsTAG	NP_001305017.1:n.170+154_170+156delinsTAG
NM_001365135.2:c.1131+154_1131+156delinsTAG	NP_001352064.1:n.1131+154_1131+156delinsTAG
NR_027400.3:n.1216+194_1216+196delinsTAG
NR_134502.2:n.563+847_563+849delinsTAG