Canonical Allele Identifier: CA2307359035
Gene: MC4R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371598_60371600delinsATC , CM000680.2:g.60371598_60371600delinsATC GRCh38
NC_000018.9:g.58038831_58038833delinsATC , CM000680.1:g.58038831_58038833delinsATC GRCh37
NC_000018.8:g.56189811_56189813delinsATC NCBI36
NG_016441.1:g.6169_6171delinsGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.750_752delinsGAT MANE Select ENSP00000299766.3:p.Leu250=
ENST00000299766.4:c.750_752delinsGAT ENSP00000299766.3:p.Leu250=
NM_005912.2:c.750_752delinsGAT NP_005903.2:p.Leu250=
NM_005912.3:c.750_752delinsGAT MANE Select NP_005903.2:p.Leu250=
Search 100 bp 5'
Search 100 bp 3'