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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:
CA2642029302
Gene: MC4R
HGNC
NCBI
Linked Data
gnomAD v4:
18-60371840-TATG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60371846_60371848del , CM000680.2:g.60371846_60371848del
GRCh38
NC_000018.9:g.58039079_58039081del , CM000680.1:g.58039079_58039081del
GRCh37
NC_000018.8:g.56190059_56190061del
NCBI36
NG_016441.1:g.5926_5928del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299766.5:c.507_509del
MANE Select
ENSP00000299766.3:p.Ile170del
ENST00000299766.4:c.507_509del
ENSP00000299766.3:p.Ile170del
NM_005912.2:c.507_509del
NP_005903.2:p.Ile170del
NM_005912.3:c.507_509del
MANE Select
NP_005903.2:p.Ile170del
Search 100 bp 5'
Search 100 bp 3'