Canonical Allele Identifier: CA1950145776

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390800_6390803delinsGGCC , CM000673.2:g.6390800_6390803delinsGGCC	GRCh38
NC_000011.9:g.6412030_6412033delinsGGCC , CM000673.1:g.6412030_6412033delinsGGCC	GRCh37
NC_000011.8:g.6368606_6368609delinsGGCC	NCBI36
NG_011780.1:g.5376_5379delinsGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.202_205delinsGGCC MANE Select	ENSP00000340409.4:p.Gly68=
ENST00000342245.8:c.202_205delinsGGCC	ENSP00000340409.4:p.Gly68=
ENST00000527275.5:c.202_205delinsGGCC	ENSP00000435350.1:p.Gly68=
ENST00000530395.1:c.-96+161_-96+164delinsGGCC	ENSP00000431479.1:n.-96+161_-96+164delinsGGCC
ENST00000531303.5:c.202_205delinsGGCC	ENSP00000432625.1:p.Gly68=
ENST00000533123.5:c.202_205delinsGGCC	ENSP00000435950.1:p.Gly68=
ENST00000533196.1:n.361_364delinsGGCC
ENST00000534405.5:c.202_205delinsGGCC	ENSP00000434353.1:p.Gly68=
NM_000543.4:c.202_205delinsGGCC	NP_000534.3:p.Gly68=
NM_001007593.2:c.202_205delinsGGCC	NP_001007594.2:p.Gly68=
XM_005253075.3:c.202_205delinsGGCC	XP_005253132.1:p.Gly68=
XM_011520303.1:c.202_205delinsGGCC	XP_011518605.1:p.Gly68=
XM_011520304.1:c.202_205delinsGGCC	XP_011518606.1:p.Gly68=
XR_930886.1:n.500_503delinsGGCC
NM_001318087.1:c.202_205delinsGGCC	NP_001305016.1:p.Gly68=
NM_001318088.1:c.-760_-757delinsGGCC	NP_001305017.1:n.-760_-757delinsGGCC
NM_001365135.1:c.202_205delinsGGCC	NP_001352064.1:p.Gly68=
NR_027400.2:n.387_390delinsGGCC
NR_134502.1:n.387_390delinsGGCC
XM_011520304.2:c.202_205delinsGGCC	XP_011518606.1:p.Gly68=
XR_001747940.2:n.327_330delinsGGCC
XR_002957158.1:n.327_330delinsGGCC
NM_000543.5:c.202_205delinsGGCC MANE Select	NP_000534.3:p.Gly68=
NM_001007593.3:c.202_205delinsGGCC	NP_001007594.2:p.Gly68=
NM_001318087.2:c.202_205delinsGGCC	NP_001305016.1:p.Gly68=
NM_001318088.2:c.-760_-757delinsGGCC	NP_001305017.1:n.-760_-757delinsGGCC
NM_001365135.2:c.202_205delinsGGCC	NP_001352064.1:p.Gly68=
NR_027400.3:n.327_330delinsGGCC
NR_134502.2:n.327_330delinsGGCC