Canonical Allele Identifier: CA2790302501

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392350_6392351insTTTTTTGTTTTTTT , CM000673.2:g.6392350_6392351insTTTTTTGTTTTTTT	GRCh38
NC_000011.9:g.6413580_6413581insTTTTTTGTTTTTTT , CM000673.1:g.6413580_6413581insTTTTTTGTTTTTTT	GRCh37
NC_000011.8:g.6370156_6370157insTTTTTTGTTTTTTT	NCBI36
NG_011780.1:g.6926_6927insTTTTTTGTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+194_1091+195insTTTTTTGTTTTTTT MANE Select	ENSP00000340409.4:n.1091+194_1091+195insTTTTTTGTTTTTTT
ENST00000342245.8:c.1091+194_1091+195insTTTTTTGTTTTTTT	ENSP00000340409.4:n.1091+194_1091+195insTTTTTTGTTTTTTT
ENST00000526280.1:c.320+154_320+155insTTTTTTGTTTTTTT
ENST00000527275.5:c.1088+194_1088+195insTTTTTTGTTTTTTT	ENSP00000435350.1:n.1088+194_1088+195insTTTTTTGTTTTTTT
ENST00000531303.5:c.438+847_438+848insTTTTTTGTTTTTTT	ENSP00000432625.1:n.438+847_438+848insTTTTTTGTTTTTTT
ENST00000533123.5:c.1091+194_1091+195insTTTTTTGTTTTTTT	ENSP00000435950.1:n.1091+194_1091+195insTTTTTTGTTTTTTT
ENST00000534405.5:c.1131+154_1131+155insTTTTTTGTTTTTTT	ENSP00000434353.1:n.1131+154_1131+155insTTTTTTGTTTTTTT
NM_000543.4:c.1091+194_1091+195insTTTTTTGTTTTTTT	NP_000534.3:n.1091+194_1091+195insTTTTTTGTTTTTTT
NM_001007593.2:c.1088+194_1088+195insTTTTTTGTTTTTTT	NP_001007594.2:n.1088+194_1088+195insTTTTTTGTTTTTTT
XM_005253075.3:c.1091+194_1091+195insTTTTTTGTTTTTTT	XP_005253132.1:n.1091+194_1091+195insTTTTTTGTTTTTTT
XM_011520303.1:c.1131+154_1131+155insTTTTTTGTTTTTTT	XP_011518605.1:n.1131+154_1131+155insTTTTTTGTTTTTTT
XM_011520304.1:c.1131+154_1131+155insTTTTTTGTTTTTTT	XP_011518606.1:n.1131+154_1131+155insTTTTTTGTTTTTTT
XR_930886.1:n.1429+154_1429+155insTTTTTTGTTTTTTT
NM_001318087.1:c.1091+194_1091+195insTTTTTTGTTTTTTT	NP_001305016.1:n.1091+194_1091+195insTTTTTTGTTTTTTT
NM_001318088.1:c.170+154_170+155insTTTTTTGTTTTTTT	NP_001305017.1:n.170+154_170+155insTTTTTTGTTTTTTT
NM_001365135.1:c.1131+154_1131+155insTTTTTTGTTTTTTT	NP_001352064.1:n.1131+154_1131+155insTTTTTTGTTTTTTT
NR_027400.2:n.1276+194_1276+195insTTTTTTGTTTTTTT
NR_134502.1:n.623+847_623+848insTTTTTTGTTTTTTT
XM_011520304.2:c.1131+154_1131+155insTTTTTTGTTTTTTT	XP_011518606.1:n.1131+154_1131+155insTTTTTTGTTTTTTT
XR_001747940.2:n.1256+154_1256+155insTTTTTTGTTTTTTT
XR_002957158.1:n.1256+154_1256+155insTTTTTTGTTTTTTT
NM_000543.5:c.1091+194_1091+195insTTTTTTGTTTTTTT MANE Select	NP_000534.3:n.1091+194_1091+195insTTTTTTGTTTTTTT
NM_001007593.3:c.1088+194_1088+195insTTTTTTGTTTTTTT	NP_001007594.2:n.1088+194_1088+195insTTTTTTGTTTTTTT
NM_001318087.2:c.1091+194_1091+195insTTTTTTGTTTTTTT	NP_001305016.1:n.1091+194_1091+195insTTTTTTGTTTTTTT
NM_001318088.2:c.170+154_170+155insTTTTTTGTTTTTTT	NP_001305017.1:n.170+154_170+155insTTTTTTGTTTTTTT
NM_001365135.2:c.1131+154_1131+155insTTTTTTGTTTTTTT	NP_001352064.1:n.1131+154_1131+155insTTTTTTGTTTTTTT
NR_027400.3:n.1216+194_1216+195insTTTTTTGTTTTTTT
NR_134502.2:n.563+847_563+848insTTTTTTGTTTTTTT