Canonical Allele Identifier: CA912972805

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6411970_6411976del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390740_6390746del , CM000673.2:g.6390740_6390746del	GRCh38
NC_000011.9:g.6411970_6411976del , CM000673.1:g.6411970_6411976del	GRCh37
NC_000011.8:g.6368546_6368552del	NCBI36
NG_011780.1:g.5316_5322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.142_148del MANE Select	ENSP00000340409.4:p.Ala48LeufsTer27
ENST00000342245.8:c.142_148del	ENSP00000340409.4:p.Ala48LeufsTer27
ENST00000527275.5:c.142_148del	ENSP00000435350.1:p.Ala48LeufsTer27
ENST00000530395.1:c.-96+101_-96+107del	ENSP00000431479.1:n.-96+101_-96+107del
ENST00000531303.5:c.142_148del	ENSP00000432625.1:p.Ala48LeufsTer27
ENST00000533123.5:c.142_148del	ENSP00000435950.1:p.Ala48LeufsTer27
ENST00000533196.1:n.301_307del
ENST00000534405.5:c.142_148del	ENSP00000434353.1:p.Ala48LeufsTer27
NM_000543.4:c.142_148del	NP_000534.3:p.Ala48LeufsTer27
NM_001007593.2:c.142_148del	NP_001007594.2:p.Ala48LeufsTer27
XM_005253075.3:c.142_148del	XP_005253132.1:p.Ala48LeufsTer27
XM_011520303.1:c.142_148del	XP_011518605.1:p.Ala48LeufsTer27
XM_011520304.1:c.142_148del	XP_011518606.1:p.Ala48LeufsTer27
XR_930886.1:n.440_446del
NM_001318087.1:c.142_148del	NP_001305016.1:p.Ala48LeufsTer27
NM_001318088.1:c.-820_-814del	NP_001305017.1:n.-820_-814del
NM_001365135.1:c.142_148del	NP_001352064.1:p.Ala48LeufsTer27
NR_027400.2:n.327_333del
NR_134502.1:n.327_333del
XM_011520304.2:c.142_148del	XP_011518606.1:p.Ala48LeufsTer27
XR_001747940.2:n.267_273del
XR_002957158.1:n.267_273del
NM_000543.5:c.142_148del MANE Select	NP_000534.3:p.Ala48LeufsTer27
NM_001007593.3:c.142_148del	NP_001007594.2:p.Ala48LeufsTer27
NM_001318087.2:c.142_148del	NP_001305016.1:p.Ala48LeufsTer27
NM_001318088.2:c.-820_-814del	NP_001305017.1:n.-820_-814del
NM_001365135.2:c.142_148del	NP_001352064.1:p.Ala48LeufsTer27
NR_027400.3:n.267_273del
NR_134502.2:n.267_273del