Canonical Allele Identifier: CA2641148023
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13885276-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885280del , CM000680.2:g.13885280del GRCh38
NC_000018.9:g.13885279del , CM000680.1:g.13885279del GRCh37
NC_000018.8:g.13875279del NCBI36
NG_011819.1:g.35260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.242del MANE Select ENSP00000333821.2:p.Asn81IlefsTer3
ENST00000327606.3:c.242del ENSP00000333821.2:p.Asn81IlefsTer3
ENST00000399821.2:c.242del ENSP00000382718.2:p.Asn81IlefsTer3
NM_000529.2:c.242del MANE Select NP_000520.1:p.Asn81IlefsTer3
NM_001291911.1:c.242del NP_001278840.1:p.Asn81IlefsTer3
XM_017025781.1:c.242del XP_016881270.1:p.Asn81IlefsTer3
Search 100 bp 5'
Search 100 bp 3'