Canonical Allele Identifier: CA2574738564
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390986_6390991del , CM000673.2:g.6390986_6390991del GRCh38
NC_000011.9:g.6412216_6412221del , CM000673.1:g.6412216_6412221del GRCh37
NC_000011.8:g.6368792_6368797del NCBI36
NG_011780.1:g.5562_5567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.318+70_318+75del MANE Select ENSP00000340409.4:n.318+70_318+75del
ENST00000342245.8:c.318+70_318+75del ENSP00000340409.4:n.318+70_318+75del
ENST00000527275.5:c.318+70_318+75del ENSP00000435350.1:n.318+70_318+75del
ENST00000530395.1:c.-96+347_-96+352del ENSP00000431479.1:n.-96+347_-96+352del
ENST00000531303.5:c.318+70_318+75del ENSP00000432625.1:n.318+70_318+75del
ENST00000533123.5:c.318+70_318+75del ENSP00000435950.1:n.318+70_318+75del
ENST00000533196.1:n.374+173_374+178del
ENST00000534405.5:c.318+70_318+75del ENSP00000434353.1:n.318+70_318+75del
NM_000543.4:c.318+70_318+75del NP_000534.3:n.318+70_318+75del
NM_001007593.2:c.318+70_318+75del NP_001007594.2:n.318+70_318+75del
XM_005253075.3:c.318+70_318+75del XP_005253132.1:n.318+70_318+75del
XM_011520303.1:c.318+70_318+75del XP_011518605.1:n.318+70_318+75del
XM_011520304.1:c.318+70_318+75del XP_011518606.1:n.318+70_318+75del
XR_930886.1:n.616+70_616+75del
NM_001318087.1:c.318+70_318+75del NP_001305016.1:n.318+70_318+75del
NM_001318088.1:c.-644+70_-644+75del NP_001305017.1:n.-644+70_-644+75del
NM_001365135.1:c.318+70_318+75del NP_001352064.1:n.318+70_318+75del
NR_027400.2:n.503+70_503+75del
NR_134502.1:n.503+70_503+75del
XM_011520304.2:c.318+70_318+75del XP_011518606.1:n.318+70_318+75del
XR_001747940.2:n.443+70_443+75del
XR_002957158.1:n.443+70_443+75del
NM_000543.5:c.318+70_318+75del MANE Select NP_000534.3:n.318+70_318+75del
NM_001007593.3:c.318+70_318+75del NP_001007594.2:n.318+70_318+75del
NM_001318087.2:c.318+70_318+75del NP_001305016.1:n.318+70_318+75del
NM_001318088.2:c.-644+70_-644+75del NP_001305017.1:n.-644+70_-644+75del
NM_001365135.2:c.318+70_318+75del NP_001352064.1:n.318+70_318+75del
NR_027400.3:n.443+70_443+75del
NR_134502.2:n.443+70_443+75del