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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2674169334
Gene: CARTPT
HGNC
NCBI
Linked Data
gnomAD v4:
5-71719592-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.71719594del , CM000667.2:g.71719594del
GRCh38
NC_000005.9:g.71015421del , CM000667.1:g.71015421del
GRCh37
NC_000005.8:g.71051177del
NCBI36
NG_015988.1:g.5432del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296777.5:c.159+142del
MANE Select
ENSP00000296777.4:n.159+142del
ENST00000296777.4:c.159+142del
ENSP00000296777.4:n.159+142del
ENST00000513096.1:n.16del
NM_004291.3:c.159+142del
NP_004282.1:n.159+142del
NM_004291.4:c.159+142del
MANE Select
NP_004282.1:n.159+142del
Search 100 bp 5'
Search 100 bp 3'