×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2695227731
Gene: MC4R
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60371705_60371707del , CM000680.2:g.60371705_60371707del
GRCh38
NC_000018.9:g.58038938_58038940del , CM000680.1:g.58038938_58038940del
GRCh37
NC_000018.8:g.56189918_56189920del
NCBI36
NG_016441.1:g.6062_6064del
Transcript Alleles
HGVS
Amino-acid change
ENST00000299766.5:c.643_645del
MANE Select
ENSP00000299766.3:p.Met215del
ENST00000299766.4:c.643_645del
ENSP00000299766.3:p.Met215del
NM_005912.2:c.643_645del
NP_005903.2:p.Met215del
NM_005912.3:c.643_645del
MANE Select
NP_005903.2:p.Met215del
Search 100 bp 5'
Search 100 bp 3'