Canonical Allele Identifier: CA2641150773
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884754-CAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884755_13884756del , CM000680.2:g.13884755_13884756del GRCh38
NC_000018.9:g.13884754_13884755del , CM000680.1:g.13884754_13884755del GRCh37
NC_000018.8:g.13874754_13874755del NCBI36
NG_011819.1:g.35781_35782del

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.763_764del MANE Select ENSP00000333821.2:p.Met255ValfsTer17
ENST00000327606.3:c.763_764del ENSP00000333821.2:p.Met255ValfsTer17
NM_000529.2:c.763_764del MANE Select NP_000520.1:p.Met255ValfsTer17
NM_001291911.1:c.763_764del NP_001278840.1:p.Met255ValfsTer17
XM_017025781.1:c.763_764del XP_016881270.1:p.Met255ValfsTer17
Search 100 bp 5'
Search 100 bp 3'