Canonical Allele Identifier: CA2642029298
Gene: MC4R HGNC NCBI

Linked Data

gnomAD v4: 18-60371735-C-CAGCATGGTGAAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371737_60371748dup , CM000680.2:g.60371737_60371748dup GRCh38
NC_000018.9:g.58038970_58038981dup , CM000680.1:g.58038970_58038981dup GRCh37
NC_000018.8:g.56189950_56189961dup NCBI36
NG_016441.1:g.6022_6033dup

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.603_614dup MANE Select ENSP00000299766.3:p.Leu205_Ala206insPheTh...
ENST00000299766.4:c.603_614dup ENSP00000299766.3:p.Leu205_Ala206insPheTh...
NM_005912.2:c.603_614dup NP_005903.2:p.Leu205_Ala206insPheThrMetLe...
NM_005912.3:c.603_614dup MANE Select NP_005903.2:p.Leu205_Ala206insPheThrMetLe...
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