Canonical Allele Identifier: CA2822218970
Gene: CHM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85958979_85958980insACTC , CM000685.2:g.85958979_85958980insACTC GRCh38
NC_000023.10:g.85213984_85213985insACTC , CM000685.1:g.85213984_85213985insACTC GRCh37
NC_000023.9:g.85100640_85100641insACTC NCBI36
NG_009874.2:g.93583_93584insGAGT , LRG_699:g.93583_93584insGAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.703-3_703-2insGAGT MANE Select ENSP00000350386.2:n.703-3_703-2insGAGT
ENST00000357749.6:c.703-3_703-2insGAGT ENSP00000350386.2:n.703-3_703-2insGAGT
ENST00000467744.2:n.126+68511_126+68512insGAGT
NM_000390.2:c.703-3_703-2insGAGT , LRG_699t1:c.703-3_703-2insGAGT NP_000381.1:n.703-3_703-2insGAGT
XM_006724615.2:c.640-3_640-2insGAGT XP_006724678.1:n.640-3_640-2insGAGT
XM_011530839.1:c.259-3_259-2insGAGT XP_011529141.1:n.259-3_259-2insGAGT
NM_000390.3:c.703-3_703-2insGAGT NP_000381.1:n.703-3_703-2insGAGT
NM_001320959.1:c.259-3_259-2insGAGT NP_001307888.1:n.259-3_259-2insGAGT
NM_001362517.1:c.259-3_259-2insGAGT NP_001349446.1:n.259-3_259-2insGAGT
NM_001362518.1:c.259-3_259-2insGAGT NP_001349447.1:n.259-3_259-2insGAGT
NM_001362519.1:c.259-3_259-2insGAGT NP_001349448.1:n.259-3_259-2insGAGT
XM_017029242.2:c.703-3_703-2insGAGT XP_016884731.1:n.703-3_703-2insGAGT
XM_017029246.1:c.259-3_259-2insGAGT XP_016884735.1:n.259-3_259-2insGAGT
XM_024452331.1:c.259-3_259-2insGAGT XP_024308099.1:n.259-3_259-2insGAGT
NM_000390.4:c.703-3_703-2insGAGT MANE Select NP_000381.1:n.703-3_703-2insGAGT
NM_001362518.2:c.259-3_259-2insGAGT NP_001349447.1:n.259-3_259-2insGAGT