Canonical Allele Identifier: CA1077369012
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1748656363
gnomAD v3: 5-71719359-GT-G
gnomAD v4: 5-71719359-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719361del , CM000667.2:g.71719361del GRCh38
NC_000005.9:g.71015188del , CM000667.1:g.71015188del GRCh37
NC_000005.8:g.71050944del NCBI36
NG_015988.1:g.5199del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.68del MANE Select ENSP00000296777.4:p.Leu23TrpfsTer?
ENST00000296777.4:c.68del ENSP00000296777.4:p.Leu23TrpfsTer?
NM_004291.3:c.68del NP_004282.1:p.Leu23TrpfsTer?
NM_004291.4:c.68del MANE Select NP_004282.1:p.Leu23TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'