Canonical Allele Identifier: CA917499475
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1561185795
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719345_71719363del , CM000667.2:g.71719345_71719363del GRCh38
NC_000005.9:g.71015172_71015190del , CM000667.1:g.71015172_71015190del GRCh37
NC_000005.8:g.71050928_71050946del NCBI36
NG_015988.1:g.5183_5201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.52_70del MANE Select ENSP00000296777.4:p.Leu18ValfsTer30
ENST00000296777.4:c.52_70del ENSP00000296777.4:p.Leu18ValfsTer30
NM_004291.3:c.52_70del NP_004282.1:p.Leu18ValfsTer30
NM_004291.4:c.52_70del MANE Select NP_004282.1:p.Leu18ValfsTer30
Search 100 bp 5'
Search 100 bp 3'