Canonical Allele Identifier: CA1950145699

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390707_6390716delinsCTGGCGCTGG , CM000673.2:g.6390707_6390716delinsCTGGCGCTGG	GRCh38
NC_000011.9:g.6411937_6411946delinsCTGGCGCTGG , CM000673.1:g.6411937_6411946delinsCTGGCGCTGG	GRCh37
NC_000011.8:g.6368513_6368522delinsCTGGCGCTGG	NCBI36
NG_011780.1:g.5283_5292delinsCTGGCGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.109_118delinsCTGGCGCTGG MANE Select	ENSP00000340409.4:p.Leu37=
ENST00000342245.8:c.109_118delinsCTGGCGCTGG	ENSP00000340409.4:p.Leu37=
ENST00000527275.5:c.109_118delinsCTGGCGCTGG	ENSP00000435350.1:p.Leu37=
ENST00000530395.1:c.-96+68_-96+77delinsCTGGCGCTGG	ENSP00000431479.1:n.-96+68_-96+77delinsCTGGCGCTGG
ENST00000531303.5:c.109_118delinsCTGGCGCTGG	ENSP00000432625.1:p.Leu37=
ENST00000533123.5:c.109_118delinsCTGGCGCTGG	ENSP00000435950.1:p.Leu37=
ENST00000533196.1:n.268_277delinsCTGGCGCTGG
ENST00000534405.5:c.109_118delinsCTGGCGCTGG	ENSP00000434353.1:p.Leu37=
NM_000543.4:c.109_118delinsCTGGCGCTGG	NP_000534.3:p.Leu37=
NM_001007593.2:c.109_118delinsCTGGCGCTGG	NP_001007594.2:p.Leu37=
XM_005253075.3:c.109_118delinsCTGGCGCTGG	XP_005253132.1:p.Leu37=
XM_011520303.1:c.109_118delinsCTGGCGCTGG	XP_011518605.1:p.Leu37=
XM_011520304.1:c.109_118delinsCTGGCGCTGG	XP_011518606.1:p.Leu37=
XR_930886.1:n.407_416delinsCTGGCGCTGG
NM_001318087.1:c.109_118delinsCTGGCGCTGG	NP_001305016.1:p.Leu37=
NM_001318088.1:c.-853_-844delinsCTGGCGCTGG	NP_001305017.1:n.-853_-844delinsCTGGCGCTGG
NM_001365135.1:c.109_118delinsCTGGCGCTGG	NP_001352064.1:p.Leu37=
NR_027400.2:n.294_303delinsCTGGCGCTGG
NR_134502.1:n.294_303delinsCTGGCGCTGG
XM_011520304.2:c.109_118delinsCTGGCGCTGG	XP_011518606.1:p.Leu37=
XR_001747940.2:n.234_243delinsCTGGCGCTGG
XR_002957158.1:n.234_243delinsCTGGCGCTGG
NM_000543.5:c.109_118delinsCTGGCGCTGG MANE Select	NP_000534.3:p.Leu37=
NM_001007593.3:c.109_118delinsCTGGCGCTGG	NP_001007594.2:p.Leu37=
NM_001318087.2:c.109_118delinsCTGGCGCTGG	NP_001305016.1:p.Leu37=
NM_001318088.2:c.-853_-844delinsCTGGCGCTGG	NP_001305017.1:n.-853_-844delinsCTGGCGCTGG
NM_001365135.2:c.109_118delinsCTGGCGCTGG	NP_001352064.1:p.Leu37=
NR_027400.3:n.234_243delinsCTGGCGCTGG
NR_134502.2:n.234_243delinsCTGGCGCTGG