Canonical Allele Identifier: CA1950145710

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390713_6390714delinsCT , CM000673.2:g.6390713_6390714delinsCT	GRCh38
NC_000011.9:g.6411943_6411944delinsCT , CM000673.1:g.6411943_6411944delinsCT	GRCh37
NC_000011.8:g.6368519_6368520delinsCT	NCBI36
NG_011780.1:g.5289_5290delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.115_116delinsCT MANE Select	ENSP00000340409.4:p.Leu39=
ENST00000342245.8:c.115_116delinsCT	ENSP00000340409.4:p.Leu39=
ENST00000527275.5:c.115_116delinsCT	ENSP00000435350.1:p.Leu39=
ENST00000530395.1:c.-96+74_-96+75delinsCT	ENSP00000431479.1:n.-96+74_-96+75delinsCT
ENST00000531303.5:c.115_116delinsCT	ENSP00000432625.1:p.Leu39=
ENST00000533123.5:c.115_116delinsCT	ENSP00000435950.1:p.Leu39=
ENST00000533196.1:n.274_275delinsCT
ENST00000534405.5:c.115_116delinsCT	ENSP00000434353.1:p.Leu39=
NM_000543.4:c.115_116delinsCT	NP_000534.3:p.Leu39=
NM_001007593.2:c.115_116delinsCT	NP_001007594.2:p.Leu39=
XM_005253075.3:c.115_116delinsCT	XP_005253132.1:p.Leu39=
XM_011520303.1:c.115_116delinsCT	XP_011518605.1:p.Leu39=
XM_011520304.1:c.115_116delinsCT	XP_011518606.1:p.Leu39=
XR_930886.1:n.413_414delinsCT
NM_001318087.1:c.115_116delinsCT	NP_001305016.1:p.Leu39=
NM_001318088.1:c.-847_-846delinsCT	NP_001305017.1:n.-847_-846delinsCT
NM_001365135.1:c.115_116delinsCT	NP_001352064.1:p.Leu39=
NR_027400.2:n.300_301delinsCT
NR_134502.1:n.300_301delinsCT
XM_011520304.2:c.115_116delinsCT	XP_011518606.1:p.Leu39=
XR_001747940.2:n.240_241delinsCT
XR_002957158.1:n.240_241delinsCT
NM_000543.5:c.115_116delinsCT MANE Select	NP_000534.3:p.Leu39=
NM_001007593.3:c.115_116delinsCT	NP_001007594.2:p.Leu39=
NM_001318087.2:c.115_116delinsCT	NP_001305016.1:p.Leu39=
NM_001318088.2:c.-847_-846delinsCT	NP_001305017.1:n.-847_-846delinsCT
NM_001365135.2:c.115_116delinsCT	NP_001352064.1:p.Leu39=
NR_027400.3:n.240_241delinsCT
NR_134502.2:n.240_241delinsCT