Canonical Allele Identifier: CA1950146358

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391845_6391868delinsGAGCCTGTTGAGTGGGCTGGGCCC , CM000673.2:g.6391845_6391868delinsGAGCCTGTTGAGTGGGCTGGGCCC	GRCh38
NC_000011.9:g.6413075_6413098delinsGAGCCTGTTGAGTGGGCTGGGCCC , CM000673.1:g.6413075_6413098delinsGAGCCTGTTGAGTGGGCTGGGCCC	GRCh37
NC_000011.8:g.6369651_6369674delinsGAGCCTGTTGAGTGGGCTGGGCCC	NCBI36
NG_011780.1:g.6421_6444delinsGAGCCTGTTGAGTGGGCTGGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC MANE Select	ENSP00000340409.4:p.Glu260=
ENST00000342245.8:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	ENSP00000340409.4:p.Glu260=
ENST00000527275.5:c.777_800delinsGAGCCTGTTGAGTGGGCTGGGCCC	ENSP00000435350.1:p.Glu259=
ENST00000530395.1:c.-40_-17delinsGAGCCTGTTGAGTGGGCTGGGCCC	ENSP00000431479.1:n.-40_-17delinsGAGCCTGTTGAGTGGGCTGGGCCC
ENST00000531303.5:c.438+342_438+365delinsGAGCCTGTTGAGTGGGCTGGGCCC	ENSP00000432625.1:n.438+342_438+365delinsGAGCCTGTTGAGTGGGCTGG...
ENST00000533123.5:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	ENSP00000435950.1:p.Glu260=
ENST00000533196.1:n.375-161_375-138delinsGAGCCTGTTGAGTGGGCTGGGCCC
ENST00000534405.5:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	ENSP00000434353.1:p.Glu260=
NM_000543.4:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_000534.3:p.Glu260=
NM_001007593.2:c.777_800delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_001007594.2:p.Glu259=
XM_005253075.3:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	XP_005253132.1:p.Glu260=
XM_011520303.1:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	XP_011518605.1:p.Glu260=
XM_011520304.1:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	XP_011518606.1:p.Glu260=
XR_930886.1:n.1078_1101delinsGAGCCTGTTGAGTGGGCTGGGCCC
NM_001318087.1:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_001305016.1:p.Glu260=
NM_001318088.1:c.-182_-159delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_001305017.1:n.-182_-159delinsGAGCCTGTTGAGTGGGCTGGGCCC
NM_001365135.1:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_001352064.1:p.Glu260=
NR_027400.2:n.965_988delinsGAGCCTGTTGAGTGGGCTGGGCCC
NR_134502.1:n.623+342_623+365delinsGAGCCTGTTGAGTGGGCTGGGCCC
XM_011520304.2:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	XP_011518606.1:p.Glu260=
XR_001747940.2:n.905_928delinsGAGCCTGTTGAGTGGGCTGGGCCC
XR_002957158.1:n.905_928delinsGAGCCTGTTGAGTGGGCTGGGCCC
NM_000543.5:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC MANE Select	NP_000534.3:p.Glu260=
NM_001007593.3:c.777_800delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_001007594.2:p.Glu259=
NM_001318087.2:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_001305016.1:p.Glu260=
NM_001318088.2:c.-182_-159delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_001305017.1:n.-182_-159delinsGAGCCTGTTGAGTGGGCTGGGCCC
NM_001365135.2:c.780_803delinsGAGCCTGTTGAGTGGGCTGGGCCC	NP_001352064.1:p.Glu260=
NR_027400.3:n.905_928delinsGAGCCTGTTGAGTGGGCTGGGCCC
NR_134502.2:n.563+342_563+365delinsGAGCCTGTTGAGTGGGCTGGGCCC