Canonical Allele Identifier: CA2285919614
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885554_13885559delinsGGACTT , CM000680.2:g.13885554_13885559delinsGGACTT GRCh38
NC_000018.9:g.13885553_13885558delinsGGACTT , CM000680.1:g.13885553_13885558delinsGGACTT GRCh37
NC_000018.8:g.13875553_13875558delinsGGACTT NCBI36
NG_011819.1:g.34978_34983delinsAAGTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.-41_-36delinsAAGTCC MANE Select ENSP00000333821.2:n.-41_-36delinsAAGTCC
ENST00000327606.3:c.-41_-36delinsAAGTCC ENSP00000333821.2:n.-41_-36delinsAAGTCC
ENST00000399821.2:c.-41_-36delinsAAGTCC ENSP00000382718.2:n.-41_-36delinsAAGTCC
NM_000529.2:c.-41_-36delinsAAGTCC MANE Select NP_000520.1:n.-41_-36delinsAAGTCC
NM_001291911.1:c.-41_-36delinsAAGTCC NP_001278840.1:n.-41_-36delinsAAGTCC
XM_017025781.1:c.-41_-36delinsAAGTCC XP_016881270.1:n.-41_-36delinsAAGTCC