Canonical Allele Identifier: CA2641148014
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13885013-GAGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885017_13885019del , CM000680.2:g.13885017_13885019del GRCh38
NC_000018.9:g.13885016_13885018del , CM000680.1:g.13885016_13885018del GRCh37
NC_000018.8:g.13875016_13875018del NCBI36
NG_011819.1:g.35521_35523del

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.503_505del MANE Select ENSP00000333821.2:p.Phe168del
ENST00000327606.3:c.503_505del ENSP00000333821.2:p.Phe168del
NM_000529.2:c.503_505del MANE Select NP_000520.1:p.Phe168del
NM_001291911.1:c.503_505del NP_001278840.1:p.Phe168del
XM_017025781.1:c.503_505del XP_016881270.1:p.Phe168del
Search 100 bp 5'
Search 100 bp 3'