Canonical Allele Identifier: CA2695201067

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2679032
• ClinVar RCV Id: RCV003474046

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390720_6390726del , CM000673.2:g.6390720_6390726del	GRCh38
NC_000011.9:g.6411950_6411956del , CM000673.1:g.6411950_6411956del	GRCh37
NC_000011.8:g.6368526_6368532del	NCBI36
NG_011780.1:g.5296_5302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.122_128del MANE Select	ENSP00000340409.4:p.Leu41ArgfsTer?
ENST00000342245.8:c.122_128del	ENSP00000340409.4:p.Leu41ArgfsTer?
ENST00000527275.5:c.122_128del	ENSP00000435350.1:p.Leu41ArgfsTer?
ENST00000530395.1:c.-96+81_-96+87del	ENSP00000431479.1:n.-96+81_-96+87del
ENST00000531303.5:c.122_128del	ENSP00000432625.1:p.Leu41ArgfsTer?
ENST00000533123.5:c.122_128del	ENSP00000435950.1:p.Leu41ArgfsTer?
ENST00000533196.1:n.281_287del
ENST00000534405.5:c.122_128del	ENSP00000434353.1:p.Leu41ArgfsTer?
NM_000543.4:c.122_128del	NP_000534.3:p.Leu41ArgfsTer?
NM_001007593.2:c.122_128del	NP_001007594.2:p.Leu41ArgfsTer?
XM_005253075.3:c.122_128del	XP_005253132.1:p.Leu41ArgfsTer?
XM_011520303.1:c.122_128del	XP_011518605.1:p.Leu41ArgfsTer?
XM_011520304.1:c.122_128del	XP_011518606.1:p.Leu41ArgfsTer?
XR_930886.1:n.420_426del
NM_001318087.1:c.122_128del	NP_001305016.1:p.Leu41ArgfsTer?
NM_001318088.1:c.-840_-834del	NP_001305017.1:n.-840_-834del
NM_001365135.1:c.122_128del	NP_001352064.1:p.Leu41ArgfsTer?
NR_027400.2:n.307_313del
NR_134502.1:n.307_313del
XM_011520304.2:c.122_128del	XP_011518606.1:p.Leu41ArgfsTer?
XR_001747940.2:n.247_253del
XR_002957158.1:n.247_253del
NM_000543.5:c.122_128del MANE Select	NP_000534.3:p.Leu41ArgfsTer?
NM_001007593.3:c.122_128del	NP_001007594.2:p.Leu41ArgfsTer?
NM_001318087.2:c.122_128del	NP_001305016.1:p.Leu41ArgfsTer?
NM_001318088.2:c.-840_-834del	NP_001305017.1:n.-840_-834del
NM_001365135.2:c.122_128del	NP_001352064.1:p.Leu41ArgfsTer?
NR_027400.3:n.247_253del
NR_134502.2:n.247_253del