Canonical Allele Identifier: CA2641148028
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13885478-GTGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885484_13885486del , CM000680.2:g.13885484_13885486del GRCh38
NC_000018.9:g.13885483_13885485del , CM000680.1:g.13885483_13885485del GRCh37
NC_000018.8:g.13875483_13875485del NCBI36
NG_011819.1:g.35056_35058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.38_40del MANE Select ENSP00000333821.2:p.Asn13del
ENST00000327606.3:c.38_40del ENSP00000333821.2:p.Asn13del
ENST00000399821.2:c.38_40del ENSP00000382718.2:p.Asn13del
NM_000529.2:c.38_40del MANE Select NP_000520.1:p.Asn13del
NM_001291911.1:c.38_40del NP_001278840.1:p.Asn13del
XM_017025781.1:c.38_40del XP_016881270.1:p.Asn13del
Search 100 bp 5'
Search 100 bp 3'