Canonical Allele Identifier: CA3298273
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs766852629
ExAC: 5:71015206 AG / A
gnomAD v2: 5-71015206-AG-A
gnomAD v4: 5-71719379-AG-A
MyVariant Identifiers: chr5:g.71015207del (hg19) chr5:g.71719380del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719381del , CM000667.2:g.71719381del GRCh38
NC_000005.9:g.71015208del , CM000667.1:g.71015208del GRCh37
NC_000005.8:g.71050964del NCBI36
NG_015988.1:g.5219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.88del MANE Select ENSP00000296777.4:p.Asp30ThrfsTer24
ENST00000296777.4:c.88del ENSP00000296777.4:p.Asp30ThrfsTer24
NM_004291.3:c.88del NP_004282.1:p.Asp30ThrfsTer24
NM_004291.4:c.88del MANE Select NP_004282.1:p.Asp30ThrfsTer24
Search 100 bp 5'
Search 100 bp 3'