Canonical Allele Identifier: CA2641150682
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884494-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884496del , CM000680.2:g.13884496del GRCh38
NC_000018.9:g.13884495del , CM000680.1:g.13884495del GRCh37
NC_000018.8:g.13874495del NCBI36
NG_011819.1:g.36042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*130del MANE Select ENSP00000333821.2:n.*130del
ENST00000327606.3:c.*130del ENSP00000333821.2:n.*130del
NM_000529.2:c.*130del MANE Select NP_000520.1:n.*130del
NM_001291911.1:c.*130del NP_001278840.1:n.*130del
XM_017025781.1:c.*130del XP_016881270.1:n.*130del
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