Canonical Allele Identifier: CA988025194
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v3: 18-13884911-T-TTAATGATAC
gnomAD v4: 18-13884911-T-TTAATGATAC
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884911_13884912insTAATGATAC , CM000680.2:g.13884911_13884912insTAATGATAC GRCh38
NC_000018.9:g.13884910_13884911insTAATGATAC , CM000680.1:g.13884910_13884911insTAATGATAC GRCh37
NC_000018.8:g.13874910_13874911insTAATGATAC NCBI36
NG_011819.1:g.35625_35626insGTATCATTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.607_608insGTATCATTA MANE Select ENSP00000333821.2:p.His203delinsArgIleIleAsn
ENST00000327606.3:c.607_608insGTATCATTA ENSP00000333821.2:p.His203delinsArgIleIleAsn
NM_000529.2:c.607_608insGTATCATTA MANE Select NP_000520.1:p.His203delinsArgIleIleAsn
NM_001291911.1:c.607_608insGTATCATTA NP_001278840.1:p.His203delinsArgIleIleAsn
XM_017025781.1:c.607_608insGTATCATTA XP_016881270.1:p.His203delinsArgIleIleAsn
Search 100 bp 5'
Search 100 bp 3'