Canonical Allele Identifier: CA1950145707

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390711_6390712delinsCG , CM000673.2:g.6390711_6390712delinsCG	GRCh38
NC_000011.9:g.6411941_6411942delinsCG , CM000673.1:g.6411941_6411942delinsCG	GRCh37
NC_000011.8:g.6368517_6368518delinsCG	NCBI36
NG_011780.1:g.5287_5288delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.113_114delinsCG MANE Select	ENSP00000340409.4:p.Ala38=
ENST00000342245.8:c.113_114delinsCG	ENSP00000340409.4:p.Ala38=
ENST00000527275.5:c.113_114delinsCG	ENSP00000435350.1:p.Ala38=
ENST00000530395.1:c.-96+72_-96+73delinsCG	ENSP00000431479.1:n.-96+72_-96+73delinsCG
ENST00000531303.5:c.113_114delinsCG	ENSP00000432625.1:p.Ala38=
ENST00000533123.5:c.113_114delinsCG	ENSP00000435950.1:p.Ala38=
ENST00000533196.1:n.272_273delinsCG
ENST00000534405.5:c.113_114delinsCG	ENSP00000434353.1:p.Ala38=
NM_000543.4:c.113_114delinsCG	NP_000534.3:p.Ala38=
NM_001007593.2:c.113_114delinsCG	NP_001007594.2:p.Ala38=
XM_005253075.3:c.113_114delinsCG	XP_005253132.1:p.Ala38=
XM_011520303.1:c.113_114delinsCG	XP_011518605.1:p.Ala38=
XM_011520304.1:c.113_114delinsCG	XP_011518606.1:p.Ala38=
XR_930886.1:n.411_412delinsCG
NM_001318087.1:c.113_114delinsCG	NP_001305016.1:p.Ala38=
NM_001318088.1:c.-849_-848delinsCG	NP_001305017.1:n.-849_-848delinsCG
NM_001365135.1:c.113_114delinsCG	NP_001352064.1:p.Ala38=
NR_027400.2:n.298_299delinsCG
NR_134502.1:n.298_299delinsCG
XM_011520304.2:c.113_114delinsCG	XP_011518606.1:p.Ala38=
XR_001747940.2:n.238_239delinsCG
XR_002957158.1:n.238_239delinsCG
NM_000543.5:c.113_114delinsCG MANE Select	NP_000534.3:p.Ala38=
NM_001007593.3:c.113_114delinsCG	NP_001007594.2:p.Ala38=
NM_001318087.2:c.113_114delinsCG	NP_001305016.1:p.Ala38=
NM_001318088.2:c.-849_-848delinsCG	NP_001305017.1:n.-849_-848delinsCG
NM_001365135.2:c.113_114delinsCG	NP_001352064.1:p.Ala38=
NR_027400.3:n.238_239delinsCG
NR_134502.2:n.238_239delinsCG