Canonical Allele Identifier: CA813670544
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1403168783
gnomAD v3: 5-71719749-CT-C
gnomAD v4: 5-71719749-CT-C
MyVariant Identifiers: chr5:g.71015577del (hg19) chr5:g.71719750del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719750del , CM000667.2:g.71719750del GRCh38
NC_000005.9:g.71015577del , CM000667.1:g.71015577del GRCh37
NC_000005.8:g.71051333del NCBI36
NG_015988.1:g.5588del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-130del MANE Select ENSP00000296777.4:n.160-130del
ENST00000296777.4:c.160-130del ENSP00000296777.4:n.160-130del
ENST00000513096.1:n.172del
NM_004291.3:c.160-130del NP_004282.1:n.160-130del
NM_004291.4:c.160-130del MANE Select NP_004282.1:n.160-130del
Search 100 bp 5'
Search 100 bp 3'