Canonical Allele Identifier: CA3298263
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs763557886
ExAC: 5:71015156 GGGC / G
gnomAD v2: 5-71015156-GGGC-G
gnomAD v4: 5-71719329-GGGC-G
MyVariant Identifiers: chr5:g.71015157_71015159del (hg19) chr5:g.71719330_71719332del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719331_71719333del , CM000667.2:g.71719331_71719333del GRCh38
NC_000005.9:g.71015158_71015160del , CM000667.1:g.71015158_71015160del GRCh37
NC_000005.8:g.71050914_71050916del NCBI36
NG_015988.1:g.5169_5171del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.38_40del MANE Select ENSP00000296777.4:p.Gly13del
ENST00000296777.4:c.38_40del ENSP00000296777.4:p.Gly13del
NM_004291.3:c.38_40del NP_004282.1:p.Gly13del
NM_004291.4:c.38_40del MANE Select NP_004282.1:p.Gly13del
Search 100 bp 5'
Search 100 bp 3'