Canonical Allele Identifier: CA2822218984
Gene: CHM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85959029_85959030insAGT , CM000685.2:g.85959029_85959030insAGT GRCh38
NC_000023.10:g.85214034_85214035insAGT , CM000685.1:g.85214034_85214035insAGT GRCh37
NC_000023.9:g.85100690_85100691insAGT NCBI36
NG_009874.2:g.93533_93534insACT , LRG_699:g.93533_93534insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.703-53_703-52insACT MANE Select ENSP00000350386.2:n.703-53_703-52insACT
ENST00000357749.6:c.703-53_703-52insACT ENSP00000350386.2:n.703-53_703-52insACT
ENST00000467744.2:n.126+68461_126+68462insACT
NM_000390.2:c.703-53_703-52insACT , LRG_699t1:c.703-53_703-52insACT NP_000381.1:n.703-53_703-52insACT
XM_006724615.2:c.640-53_640-52insACT XP_006724678.1:n.640-53_640-52insACT
XM_011530839.1:c.259-53_259-52insACT XP_011529141.1:n.259-53_259-52insACT
NM_000390.3:c.703-53_703-52insACT NP_000381.1:n.703-53_703-52insACT
NM_001320959.1:c.259-53_259-52insACT NP_001307888.1:n.259-53_259-52insACT
NM_001362517.1:c.259-53_259-52insACT NP_001349446.1:n.259-53_259-52insACT
NM_001362518.1:c.259-53_259-52insACT NP_001349447.1:n.259-53_259-52insACT
NM_001362519.1:c.259-53_259-52insACT NP_001349448.1:n.259-53_259-52insACT
XM_017029242.2:c.703-53_703-52insACT XP_016884731.1:n.703-53_703-52insACT
XM_017029246.1:c.259-53_259-52insACT XP_016884735.1:n.259-53_259-52insACT
XM_024452331.1:c.259-53_259-52insACT XP_024308099.1:n.259-53_259-52insACT
NM_000390.4:c.703-53_703-52insACT MANE Select NP_000381.1:n.703-53_703-52insACT
NM_001362518.2:c.259-53_259-52insACT NP_001349447.1:n.259-53_259-52insACT