Canonical Allele Identifier: CA2641150776
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884791-GTCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884795_13884797del , CM000680.2:g.13884795_13884797del GRCh38
NC_000018.9:g.13884794_13884796del , CM000680.1:g.13884794_13884796del GRCh37
NC_000018.8:g.13874794_13874796del NCBI36
NG_011819.1:g.35743_35745del

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.725_727del MANE Select ENSP00000333821.2:p.Met242del
ENST00000327606.3:c.725_727del ENSP00000333821.2:p.Met242del
NM_000529.2:c.725_727del MANE Select NP_000520.1:p.Met242del
NM_001291911.1:c.725_727del NP_001278840.1:p.Met242del
XM_017025781.1:c.725_727del XP_016881270.1:p.Met242del
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