Canonical Allele Identifier: CA1950145681

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390700_6390718delinsCCTGGTGCTGGCGCTGGCG , CM000673.2:g.6390700_6390718delinsCCTGGTGCTGGCGCTGGCG	GRCh38
NC_000011.9:g.6411930_6411948delinsCCTGGTGCTGGCGCTGGCG , CM000673.1:g.6411930_6411948delinsCCTGGTGCTGGCGCTGGCG	GRCh37
NC_000011.8:g.6368506_6368524delinsCCTGGTGCTGGCGCTGGCG	NCBI36
NG_011780.1:g.5276_5294delinsCCTGGTGCTGGCGCTGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.102_120delinsCCTGGTGCTGGCGCTGGCG MANE Select	ENSP00000340409.4:p.Gly34=
ENST00000342245.8:c.102_120delinsCCTGGTGCTGGCGCTGGCG	ENSP00000340409.4:p.Gly34=
ENST00000527275.5:c.102_120delinsCCTGGTGCTGGCGCTGGCG	ENSP00000435350.1:p.Gly34=
ENST00000530395.1:c.-96+61_-96+79delinsCCTGGTGCTGGCGCTGGCG	ENSP00000431479.1:n.-96+61_-96+79delinsCCTGGTGCTGGCGCTGGCG
ENST00000531303.5:c.102_120delinsCCTGGTGCTGGCGCTGGCG	ENSP00000432625.1:p.Gly34=
ENST00000533123.5:c.102_120delinsCCTGGTGCTGGCGCTGGCG	ENSP00000435950.1:p.Gly34=
ENST00000533196.1:n.261_279delinsCCTGGTGCTGGCGCTGGCG
ENST00000534405.5:c.102_120delinsCCTGGTGCTGGCGCTGGCG	ENSP00000434353.1:p.Gly34=
NM_000543.4:c.102_120delinsCCTGGTGCTGGCGCTGGCG	NP_000534.3:p.Gly34=
NM_001007593.2:c.102_120delinsCCTGGTGCTGGCGCTGGCG	NP_001007594.2:p.Gly34=
XM_005253075.3:c.102_120delinsCCTGGTGCTGGCGCTGGCG	XP_005253132.1:p.Gly34=
XM_011520303.1:c.102_120delinsCCTGGTGCTGGCGCTGGCG	XP_011518605.1:p.Gly34=
XM_011520304.1:c.102_120delinsCCTGGTGCTGGCGCTGGCG	XP_011518606.1:p.Gly34=
XR_930886.1:n.400_418delinsCCTGGTGCTGGCGCTGGCG
NM_001318087.1:c.102_120delinsCCTGGTGCTGGCGCTGGCG	NP_001305016.1:p.Gly34=
NM_001318088.1:c.-860_-842delinsCCTGGTGCTGGCGCTGGCG	NP_001305017.1:n.-860_-842delinsCCTGGTGCTGGCGCTGGCG
NM_001365135.1:c.102_120delinsCCTGGTGCTGGCGCTGGCG	NP_001352064.1:p.Gly34=
NR_027400.2:n.287_305delinsCCTGGTGCTGGCGCTGGCG
NR_134502.1:n.287_305delinsCCTGGTGCTGGCGCTGGCG
XM_011520304.2:c.102_120delinsCCTGGTGCTGGCGCTGGCG	XP_011518606.1:p.Gly34=
XR_001747940.2:n.227_245delinsCCTGGTGCTGGCGCTGGCG
XR_002957158.1:n.227_245delinsCCTGGTGCTGGCGCTGGCG
NM_000543.5:c.102_120delinsCCTGGTGCTGGCGCTGGCG MANE Select	NP_000534.3:p.Gly34=
NM_001007593.3:c.102_120delinsCCTGGTGCTGGCGCTGGCG	NP_001007594.2:p.Gly34=
NM_001318087.2:c.102_120delinsCCTGGTGCTGGCGCTGGCG	NP_001305016.1:p.Gly34=
NM_001318088.2:c.-860_-842delinsCCTGGTGCTGGCGCTGGCG	NP_001305017.1:n.-860_-842delinsCCTGGTGCTGGCGCTGGCG
NM_001365135.2:c.102_120delinsCCTGGTGCTGGCGCTGGCG	NP_001352064.1:p.Gly34=
NR_027400.3:n.227_245delinsCCTGGTGCTGGCGCTGGCG
NR_134502.2:n.227_245delinsCCTGGTGCTGGCGCTGGCG