Canonical Allele Identifier: CA2641148016
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13885037-GTCCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885038_13885041del , CM000680.2:g.13885038_13885041del GRCh38
NC_000018.9:g.13885037_13885040del , CM000680.1:g.13885037_13885040del GRCh37
NC_000018.8:g.13875037_13875040del NCBI36
NG_011819.1:g.35496_35499del

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.478_481del MANE Select ENSP00000333821.2:p.Gly160LeufsTer6
ENST00000327606.3:c.478_481del ENSP00000333821.2:p.Gly160LeufsTer6
NM_000529.2:c.478_481del MANE Select NP_000520.1:p.Gly160LeufsTer6
NM_001291911.1:c.478_481del NP_001278840.1:p.Gly160LeufsTer6
XM_017025781.1:c.478_481del XP_016881270.1:p.Gly160LeufsTer6
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