Canonical Allele Identifier: CA1950145703
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390708_6390713delinsTGGCGC , CM000673.2:g.6390708_6390713delinsTGGCGC GRCh38
NC_000011.9:g.6411938_6411943delinsTGGCGC , CM000673.1:g.6411938_6411943delinsTGGCGC GRCh37
NC_000011.8:g.6368514_6368519delinsTGGCGC NCBI36
NG_011780.1:g.5284_5289delinsTGGCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.110_115delinsTGGCGC MANE Select ENSP00000340409.4:p.Leu37=
ENST00000342245.8:c.110_115delinsTGGCGC ENSP00000340409.4:p.Leu37=
ENST00000527275.5:c.110_115delinsTGGCGC ENSP00000435350.1:p.Leu37=
ENST00000530395.1:c.-96+69_-96+74delinsTGGCGC ENSP00000431479.1:n.-96+69_-96+74delinsTGGCGC
ENST00000531303.5:c.110_115delinsTGGCGC ENSP00000432625.1:p.Leu37=
ENST00000533123.5:c.110_115delinsTGGCGC ENSP00000435950.1:p.Leu37=
ENST00000533196.1:n.269_274delinsTGGCGC
ENST00000534405.5:c.110_115delinsTGGCGC ENSP00000434353.1:p.Leu37=
NM_000543.4:c.110_115delinsTGGCGC NP_000534.3:p.Leu37=
NM_001007593.2:c.110_115delinsTGGCGC NP_001007594.2:p.Leu37=
XM_005253075.3:c.110_115delinsTGGCGC XP_005253132.1:p.Leu37=
XM_011520303.1:c.110_115delinsTGGCGC XP_011518605.1:p.Leu37=
XM_011520304.1:c.110_115delinsTGGCGC XP_011518606.1:p.Leu37=
XR_930886.1:n.408_413delinsTGGCGC
NM_001318087.1:c.110_115delinsTGGCGC NP_001305016.1:p.Leu37=
NM_001318088.1:c.-852_-847delinsTGGCGC NP_001305017.1:n.-852_-847delinsTGGCGC
NM_001365135.1:c.110_115delinsTGGCGC NP_001352064.1:p.Leu37=
NR_027400.2:n.295_300delinsTGGCGC
NR_134502.1:n.295_300delinsTGGCGC
XM_011520304.2:c.110_115delinsTGGCGC XP_011518606.1:p.Leu37=
XR_001747940.2:n.235_240delinsTGGCGC
XR_002957158.1:n.235_240delinsTGGCGC
NM_000543.5:c.110_115delinsTGGCGC MANE Select NP_000534.3:p.Leu37=
NM_001007593.3:c.110_115delinsTGGCGC NP_001007594.2:p.Leu37=
NM_001318087.2:c.110_115delinsTGGCGC NP_001305016.1:p.Leu37=
NM_001318088.2:c.-852_-847delinsTGGCGC NP_001305017.1:n.-852_-847delinsTGGCGC
NM_001365135.2:c.110_115delinsTGGCGC NP_001352064.1:p.Leu37=
NR_027400.3:n.235_240delinsTGGCGC
NR_134502.2:n.235_240delinsTGGCGC