Canonical Allele Identifier: CA679149048
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2077035
ClinVar RCV Id: RCV002972624
dbSNP Id: rs3838786

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390718_6390741del , CM000673.2:g.6390718_6390741del GRCh38
NC_000011.9:g.6411948_6411971del , CM000673.1:g.6411948_6411971del GRCh37
NC_000011.8:g.6368524_6368547del NCBI36
NG_011780.1:g.5294_5317del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.120_143del MANE Select ENSP00000340409.4:p.Leu41_Ala48del
ENST00000342245.8:c.120_143del ENSP00000340409.4:p.Leu41_Ala48del
ENST00000527275.5:c.120_143del ENSP00000435350.1:p.Leu41_Ala48del
ENST00000530395.1:c.-96+79_-96+102del ENSP00000431479.1:n.-96+79_-96+102del
ENST00000531303.5:c.120_143del ENSP00000432625.1:p.Leu41_Ala48del
ENST00000533123.5:c.120_143del ENSP00000435950.1:p.Leu41_Ala48del
ENST00000533196.1:n.279_302del
ENST00000534405.5:c.120_143del ENSP00000434353.1:p.Leu41_Ala48del
NM_000543.4:c.120_143del NP_000534.3:p.Leu41_Ala48del
NM_001007593.2:c.120_143del NP_001007594.2:p.Leu41_Ala48del
XM_005253075.3:c.120_143del XP_005253132.1:p.Leu41_Ala48del
XM_011520303.1:c.120_143del XP_011518605.1:p.Leu41_Ala48del
XM_011520304.1:c.120_143del XP_011518606.1:p.Leu41_Ala48del
XR_930886.1:n.418_441del
NM_001318087.1:c.120_143del NP_001305016.1:p.Leu41_Ala48del
NM_001318088.1:c.-842_-819del NP_001305017.1:n.-842_-819del
NM_001365135.1:c.120_143del NP_001352064.1:p.Leu41_Ala48del
NR_027400.2:n.305_328del
NR_134502.1:n.305_328del
XM_011520304.2:c.120_143del XP_011518606.1:p.Leu41_Ala48del
XR_001747940.2:n.245_268del
XR_002957158.1:n.245_268del
NM_000543.5:c.120_143del MANE Select NP_000534.3:p.Leu41_Ala48del
NM_001007593.3:c.120_143del NP_001007594.2:p.Leu41_Ala48del
NM_001318087.2:c.120_143del NP_001305016.1:p.Leu41_Ala48del
NM_001318088.2:c.-842_-819del NP_001305017.1:n.-842_-819del
NM_001365135.2:c.120_143del NP_001352064.1:p.Leu41_Ala48del
NR_027400.3:n.245_268del
NR_134502.2:n.245_268del