Canonical Allele Identifier: CA1950145683

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390700_6390712delinsCCTGGTGCTGGCG , CM000673.2:g.6390700_6390712delinsCCTGGTGCTGGCG	GRCh38
NC_000011.9:g.6411930_6411942delinsCCTGGTGCTGGCG , CM000673.1:g.6411930_6411942delinsCCTGGTGCTGGCG	GRCh37
NC_000011.8:g.6368506_6368518delinsCCTGGTGCTGGCG	NCBI36
NG_011780.1:g.5276_5288delinsCCTGGTGCTGGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.102_114delinsCCTGGTGCTGGCG MANE Select	ENSP00000340409.4:p.Gly34=
ENST00000342245.8:c.102_114delinsCCTGGTGCTGGCG	ENSP00000340409.4:p.Gly34=
ENST00000527275.5:c.102_114delinsCCTGGTGCTGGCG	ENSP00000435350.1:p.Gly34=
ENST00000530395.1:c.-96+61_-96+73delinsCCTGGTGCTGGCG	ENSP00000431479.1:n.-96+61_-96+73delinsCCTGGTGCTGGCG
ENST00000531303.5:c.102_114delinsCCTGGTGCTGGCG	ENSP00000432625.1:p.Gly34=
ENST00000533123.5:c.102_114delinsCCTGGTGCTGGCG	ENSP00000435950.1:p.Gly34=
ENST00000533196.1:n.261_273delinsCCTGGTGCTGGCG
ENST00000534405.5:c.102_114delinsCCTGGTGCTGGCG	ENSP00000434353.1:p.Gly34=
NM_000543.4:c.102_114delinsCCTGGTGCTGGCG	NP_000534.3:p.Gly34=
NM_001007593.2:c.102_114delinsCCTGGTGCTGGCG	NP_001007594.2:p.Gly34=
XM_005253075.3:c.102_114delinsCCTGGTGCTGGCG	XP_005253132.1:p.Gly34=
XM_011520303.1:c.102_114delinsCCTGGTGCTGGCG	XP_011518605.1:p.Gly34=
XM_011520304.1:c.102_114delinsCCTGGTGCTGGCG	XP_011518606.1:p.Gly34=
XR_930886.1:n.400_412delinsCCTGGTGCTGGCG
NM_001318087.1:c.102_114delinsCCTGGTGCTGGCG	NP_001305016.1:p.Gly34=
NM_001318088.1:c.-860_-848delinsCCTGGTGCTGGCG	NP_001305017.1:n.-860_-848delinsCCTGGTGCTGGCG
NM_001365135.1:c.102_114delinsCCTGGTGCTGGCG	NP_001352064.1:p.Gly34=
NR_027400.2:n.287_299delinsCCTGGTGCTGGCG
NR_134502.1:n.287_299delinsCCTGGTGCTGGCG
XM_011520304.2:c.102_114delinsCCTGGTGCTGGCG	XP_011518606.1:p.Gly34=
XR_001747940.2:n.227_239delinsCCTGGTGCTGGCG
XR_002957158.1:n.227_239delinsCCTGGTGCTGGCG
NM_000543.5:c.102_114delinsCCTGGTGCTGGCG MANE Select	NP_000534.3:p.Gly34=
NM_001007593.3:c.102_114delinsCCTGGTGCTGGCG	NP_001007594.2:p.Gly34=
NM_001318087.2:c.102_114delinsCCTGGTGCTGGCG	NP_001305016.1:p.Gly34=
NM_001318088.2:c.-860_-848delinsCCTGGTGCTGGCG	NP_001305017.1:n.-860_-848delinsCCTGGTGCTGGCG
NM_001365135.2:c.102_114delinsCCTGGTGCTGGCG	NP_001352064.1:p.Gly34=
NR_027400.3:n.227_239delinsCCTGGTGCTGGCG
NR_134502.2:n.227_239delinsCCTGGTGCTGGCG