Canonical Allele Identifier: CA1950146153

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391482_6391484delinsCTT , CM000673.2:g.6391482_6391484delinsCTT	GRCh38
NC_000011.9:g.6412712_6412714delinsCTT , CM000673.1:g.6412712_6412714delinsCTT	GRCh37
NC_000011.8:g.6369288_6369290delinsCTT	NCBI36
NG_011780.1:g.6058_6060delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.417_419delinsCTT MANE Select	ENSP00000340409.4:p.Leu139=
ENST00000342245.8:c.417_419delinsCTT	ENSP00000340409.4:p.Leu139=
ENST00000527275.5:c.414_416delinsCTT	ENSP00000435350.1:p.Leu138=
ENST00000530395.1:c.-95-308_-95-306delinsCTT	ENSP00000431479.1:n.-95-308_-95-306delinsCTT
ENST00000531303.5:c.417_419delinsCTT	ENSP00000432625.1:p.Leu139=
ENST00000533123.5:c.417_419delinsCTT	ENSP00000435950.1:p.Leu139=
ENST00000533196.1:n.375-524_375-522delinsCTT
ENST00000534405.5:c.417_419delinsCTT	ENSP00000434353.1:p.Leu139=
NM_000543.4:c.417_419delinsCTT	NP_000534.3:p.Leu139=
NM_001007593.2:c.414_416delinsCTT	NP_001007594.2:p.Leu138=
XM_005253075.3:c.417_419delinsCTT	XP_005253132.1:p.Leu139=
XM_011520303.1:c.417_419delinsCTT	XP_011518605.1:p.Leu139=
XM_011520304.1:c.417_419delinsCTT	XP_011518606.1:p.Leu139=
XR_930886.1:n.715_717delinsCTT
NM_001318087.1:c.417_419delinsCTT	NP_001305016.1:p.Leu139=
NM_001318088.1:c.-545_-543delinsCTT	NP_001305017.1:n.-545_-543delinsCTT
NM_001365135.1:c.417_419delinsCTT	NP_001352064.1:p.Leu139=
NR_027400.2:n.602_604delinsCTT
NR_134502.1:n.602_604delinsCTT
XM_011520304.2:c.417_419delinsCTT	XP_011518606.1:p.Leu139=
XR_001747940.2:n.542_544delinsCTT
XR_002957158.1:n.542_544delinsCTT
NM_000543.5:c.417_419delinsCTT MANE Select	NP_000534.3:p.Leu139=
NM_001007593.3:c.414_416delinsCTT	NP_001007594.2:p.Leu138=
NM_001318087.2:c.417_419delinsCTT	NP_001305016.1:p.Leu139=
NM_001318088.2:c.-545_-543delinsCTT	NP_001305017.1:n.-545_-543delinsCTT
NM_001365135.2:c.417_419delinsCTT	NP_001352064.1:p.Leu139=
NR_027400.3:n.542_544delinsCTT
NR_134502.2:n.542_544delinsCTT