Canonical Allele Identifier: CA2741146953

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390724_6390725del , CM000673.2:g.6390724_6390725del	GRCh38
NC_000011.9:g.6411954_6411955del , CM000673.1:g.6411954_6411955del	GRCh37
NC_000011.8:g.6368530_6368531del	NCBI36
NG_011780.1:g.5300_5301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.126_127del MANE Select	ENSP00000340409.4:p.Leu43GlyfsTer8
ENST00000342245.8:c.126_127del	ENSP00000340409.4:p.Leu43GlyfsTer8
ENST00000527275.5:c.126_127del	ENSP00000435350.1:p.Leu43GlyfsTer8
ENST00000530395.1:c.-96+85_-96+86del	ENSP00000431479.1:n.-96+85_-96+86del
ENST00000531303.5:c.126_127del	ENSP00000432625.1:p.Leu43GlyfsTer8
ENST00000533123.5:c.126_127del	ENSP00000435950.1:p.Leu43GlyfsTer8
ENST00000533196.1:n.285_286del
ENST00000534405.5:c.126_127del	ENSP00000434353.1:p.Leu43GlyfsTer8
NM_000543.4:c.126_127del	NP_000534.3:p.Leu43GlyfsTer8
NM_001007593.2:c.126_127del	NP_001007594.2:p.Leu43GlyfsTer8
XM_005253075.3:c.126_127del	XP_005253132.1:p.Leu43GlyfsTer8
XM_011520303.1:c.126_127del	XP_011518605.1:p.Leu43GlyfsTer8
XM_011520304.1:c.126_127del	XP_011518606.1:p.Leu43GlyfsTer8
XR_930886.1:n.424_425del
NM_001318087.1:c.126_127del	NP_001305016.1:p.Leu43GlyfsTer8
NM_001318088.1:c.-836_-835del	NP_001305017.1:n.-836_-835del
NM_001365135.1:c.126_127del	NP_001352064.1:p.Leu43GlyfsTer8
NR_027400.2:n.311_312del
NR_134502.1:n.311_312del
XM_011520304.2:c.126_127del	XP_011518606.1:p.Leu43GlyfsTer8
XR_001747940.2:n.251_252del
XR_002957158.1:n.251_252del
NM_000543.5:c.126_127del MANE Select	NP_000534.3:p.Leu43GlyfsTer8
NM_001007593.3:c.126_127del	NP_001007594.2:p.Leu43GlyfsTer8
NM_001318087.2:c.126_127del	NP_001305016.1:p.Leu43GlyfsTer8
NM_001318088.2:c.-836_-835del	NP_001305017.1:n.-836_-835del
NM_001365135.2:c.126_127del	NP_001352064.1:p.Leu43GlyfsTer8
NR_027400.3:n.251_252del
NR_134502.2:n.251_252del