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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:
CA2570014618
Gene: MC4R
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60371704_60371705insTC , CM000680.2:g.60371704_60371705insTC
GRCh38
NC_000018.9:g.58038937_58038938insTC , CM000680.1:g.58038937_58038938insTC
GRCh37
NC_000018.8:g.56189917_56189918insTC
NCBI36
NG_016441.1:g.6064_6065insGA
Transcript Alleles
HGVS
Amino-acid change
ENST00000299766.5:c.645_646insGA
MANE Select
ENSP00000299766.3:p.Phe216AspfsTer3
ENST00000299766.4:c.645_646insGA
ENSP00000299766.3:p.Phe216AspfsTer3
NM_005912.2:c.645_646insGA
NP_005903.2:p.Phe216AspfsTer3
NM_005912.3:c.645_646insGA
MANE Select
NP_005903.2:p.Phe216AspfsTer3
Search 100 bp 5'
Search 100 bp 3'