Canonical Allele Identifier: CA934780042
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391653_6391656del , CM000673.2:g.6391653_6391656del GRCh38
NC_000011.9:g.6412883_6412886del , CM000673.1:g.6412883_6412886del GRCh37
NC_000011.8:g.6369459_6369462del NCBI36
NG_011780.1:g.6229_6232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.588_591del MANE Select ENSP00000340409.4:p.Gly197ProfsTer?
ENST00000342245.8:c.588_591del ENSP00000340409.4:p.Gly197ProfsTer?
ENST00000527275.5:c.585_588del ENSP00000435350.1:p.Gly196ProfsTer?
ENST00000530395.1:c.-95-137_-95-134del ENSP00000431479.1:n.-95-137_-95-134del
ENST00000531303.5:c.438+150_438+153del ENSP00000432625.1:n.438+150_438+153del
ENST00000533123.5:c.588_591del ENSP00000435950.1:p.Gly197ProfsTer?
ENST00000533196.1:n.375-353_375-350del
ENST00000534405.5:c.588_591del ENSP00000434353.1:p.Gly197ProfsTer?
NM_000543.4:c.588_591del NP_000534.3:p.Gly197ProfsTer?
NM_001007593.2:c.585_588del NP_001007594.2:p.Gly196ProfsTer?
XM_005253075.3:c.588_591del XP_005253132.1:p.Gly197ProfsTer?
XM_011520303.1:c.588_591del XP_011518605.1:p.Gly197ProfsTer?
XM_011520304.1:c.588_591del XP_011518606.1:p.Gly197ProfsTer?
XR_930886.1:n.886_889del
NM_001318087.1:c.588_591del NP_001305016.1:p.Gly197ProfsTer?
NM_001318088.1:c.-374_-371del NP_001305017.1:n.-374_-371del
NM_001365135.1:c.588_591del NP_001352064.1:p.Gly197ProfsTer?
NR_027400.2:n.773_776del
NR_134502.1:n.623+150_623+153del
XM_011520304.2:c.588_591del XP_011518606.1:p.Gly197ProfsTer?
XR_001747940.2:n.713_716del
XR_002957158.1:n.713_716del
NM_000543.5:c.588_591del MANE Select NP_000534.3:p.Gly197ProfsTer?
NM_001007593.3:c.585_588del NP_001007594.2:p.Gly196ProfsTer?
NM_001318087.2:c.588_591del NP_001305016.1:p.Gly197ProfsTer?
NM_001318088.2:c.-374_-371del NP_001305017.1:n.-374_-371del
NM_001365135.2:c.588_591del NP_001352064.1:p.Gly197ProfsTer?
NR_027400.3:n.713_716del
NR_134502.2:n.563+150_563+153del