Canonical Allele Identifier: CA1139661805

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 992678
• ClinVar RCV Id: RCV001281394
• dbSNP Id: rs1847871996

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390801_6390803delinsAGGGGAGA , CM000673.2:g.6390801_6390803delinsAGGGGAGA	GRCh38
NC_000011.9:g.6412031_6412033delinsAGGGGAGA , CM000673.1:g.6412031_6412033delinsAGGGGAGA	GRCh37
NC_000011.8:g.6368607_6368609delinsAGGGGAGA	NCBI36
NG_011780.1:g.5377_5379delinsAGGGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.203_205delinsAGGGGAGA MANE Select	ENSP00000340409.4:p.Gly68GlufsTer11
ENST00000342245.8:c.203_205delinsAGGGGAGA	ENSP00000340409.4:p.Gly68GlufsTer11
ENST00000527275.5:c.203_205delinsAGGGGAGA	ENSP00000435350.1:p.Gly68GlufsTer11
ENST00000530395.1:c.-96+162_-96+164delinsAGGGGAGA	ENSP00000431479.1:n.-96+162_-96+164delinsAGGGGAGA
ENST00000531303.5:c.203_205delinsAGGGGAGA	ENSP00000432625.1:p.Gly68GlufsTer11
ENST00000533123.5:c.203_205delinsAGGGGAGA	ENSP00000435950.1:p.Gly68GlufsTer11
ENST00000533196.1:n.362_364delinsAGGGGAGA
ENST00000534405.5:c.203_205delinsAGGGGAGA	ENSP00000434353.1:p.Gly68GlufsTer11
NM_000543.4:c.203_205delinsAGGGGAGA	NP_000534.3:p.Gly68GlufsTer11
NM_001007593.2:c.203_205delinsAGGGGAGA	NP_001007594.2:p.Gly68GlufsTer11
XM_005253075.3:c.203_205delinsAGGGGAGA	XP_005253132.1:p.Gly68GlufsTer11
XM_011520303.1:c.203_205delinsAGGGGAGA	XP_011518605.1:p.Gly68GlufsTer11
XM_011520304.1:c.203_205delinsAGGGGAGA	XP_011518606.1:p.Gly68GlufsTer11
XR_930886.1:n.501_503delinsAGGGGAGA
NM_001318087.1:c.203_205delinsAGGGGAGA	NP_001305016.1:p.Gly68GlufsTer11
NM_001318088.1:c.-759_-757delinsAGGGGAGA	NP_001305017.1:n.-759_-757delinsAGGGGAGA
NM_001365135.1:c.203_205delinsAGGGGAGA	NP_001352064.1:p.Gly68GlufsTer11
NR_027400.2:n.388_390delinsAGGGGAGA
NR_134502.1:n.388_390delinsAGGGGAGA
XM_011520304.2:c.203_205delinsAGGGGAGA	XP_011518606.1:p.Gly68GlufsTer11
XR_001747940.2:n.328_330delinsAGGGGAGA
XR_002957158.1:n.328_330delinsAGGGGAGA
NM_000543.5:c.203_205delinsAGGGGAGA MANE Select	NP_000534.3:p.Gly68GlufsTer11
NM_001007593.3:c.203_205delinsAGGGGAGA	NP_001007594.2:p.Gly68GlufsTer11
NM_001318087.2:c.203_205delinsAGGGGAGA	NP_001305016.1:p.Gly68GlufsTer11
NM_001318088.2:c.-759_-757delinsAGGGGAGA	NP_001305017.1:n.-759_-757delinsAGGGGAGA
NM_001365135.2:c.203_205delinsAGGGGAGA	NP_001352064.1:p.Gly68GlufsTer11
NR_027400.3:n.328_330delinsAGGGGAGA
NR_134502.2:n.328_330delinsAGGGGAGA