Canonical Allele Identifier: CA1950147741

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393219_6393220delinsTG , CM000673.2:g.6393219_6393220delinsTG	GRCh38
NC_000011.9:g.6414449_6414450delinsTG , CM000673.1:g.6414449_6414450delinsTG	GRCh37
NC_000011.8:g.6371025_6371026delinsTG	NCBI36
NG_011780.1:g.7795_7796delinsTG
NG_029615.1:g.31195_31196delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1095_1096delinsTG MANE Select	ENSP00000340409.4:p.Ile365=
ENST00000342245.8:c.1095_1096delinsTG	ENSP00000340409.4:p.Ile365=
ENST00000526280.1:c.321-398_321-397delinsTG
ENST00000527275.5:c.1092_1093delinsTG	ENSP00000435350.1:p.Ile364=
ENST00000531303.5:c.442_443delinsTG	ENSP00000432625.1:p.Trp148=
ENST00000533123.5:c.1092-398_1092-397delinsTG	ENSP00000435950.1:n.1092-398_1092-397delinsTG
ENST00000534405.5:c.1135_1136delinsTG	ENSP00000434353.1:p.Trp379=
NM_000543.4:c.1095_1096delinsTG	NP_000534.3:p.Ile365=
NM_001007593.2:c.1092_1093delinsTG	NP_001007594.2:p.Ile364=
XM_005253075.3:c.1095_1096delinsTG	XP_005253132.1:p.Ile365=
XM_011520303.1:c.1132-398_1132-397delinsTG	XP_011518605.1:n.1132-398_1132-397delinsTG
XM_011520304.1:c.1132-398_1132-397delinsTG	XP_011518606.1:n.1132-398_1132-397delinsTG
XR_930886.1:n.1433_1434delinsTG
NM_001318087.1:c.1095_1096delinsTG	NP_001305016.1:p.Ile365=
NM_001318088.1:c.174_175delinsTG	NP_001305017.1:p.Ile58=
NM_001365135.1:c.1132-398_1132-397delinsTG	NP_001352064.1:n.1132-398_1132-397delinsTG
NR_027400.2:n.1277-398_1277-397delinsTG
NR_134502.1:n.627_628delinsTG
XM_011520304.2:c.1132-398_1132-397delinsTG	XP_011518606.1:n.1132-398_1132-397delinsTG
XR_001747940.2:n.1260_1261delinsTG
XR_002957158.1:n.1260_1261delinsTG
NM_000543.5:c.1095_1096delinsTG MANE Select	NP_000534.3:p.Ile365=
NM_001007593.3:c.1092_1093delinsTG	NP_001007594.2:p.Ile364=
NM_001318087.2:c.1095_1096delinsTG	NP_001305016.1:p.Ile365=
NM_001318088.2:c.174_175delinsTG	NP_001305017.1:p.Ile58=
NM_001365135.2:c.1132-398_1132-397delinsTG	NP_001352064.1:n.1132-398_1132-397delinsTG
NR_027400.3:n.1217-398_1217-397delinsTG
NR_134502.2:n.567_568delinsTG