Canonical Allele Identifier: CA2822218972

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958991_85958992insAACCAAACACACCCAACACA , CM000685.2:g.85958991_85958992insAACCAAACACACCCAACACA	GRCh38
NC_000023.10:g.85213996_85213997insAACCAAACACACCCAACACA , CM000685.1:g.85213996_85213997insAACCAAACACACCCAACACA	GRCh37
NC_000023.9:g.85100652_85100653insAACCAAACACACCCAACACA	NCBI36
NG_009874.2:g.93572_93573insGTGTTGGGTGTGTTTGGTTT , LRG_699:g.93572_93573insGTGTTGGGTGTGTTTGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.703-14_703-13insGTGTTGGGTGTGTTTGGTTT MANE Select	ENSP00000350386.2:n.703-14_703-13insGTGTTGGGTGTGTTTGGTTT
ENST00000357749.6:c.703-14_703-13insGTGTTGGGTGTGTTTGGTTT	ENSP00000350386.2:n.703-14_703-13insGTGTTGGGTGTGTTTGGTTT
ENST00000467744.2:n.126+68500_126+68501insGTGTTGGGTGTGTTTGGTTT
NM_000390.2:c.703-14_703-13insGTGTTGGGTGTGTTTGGTTT , LRG_699t1:c.703-14_703-13insGTGTTGGGTGTGTTTGGTTT	NP_000381.1:n.703-14_703-13insGTGTTGGGTGTGTTTGGTTT
XM_006724615.2:c.640-14_640-13insGTGTTGGGTGTGTTTGGTTT	XP_006724678.1:n.640-14_640-13insGTGTTGGGTGTGTTTGGTTT
XM_011530839.1:c.259-14_259-13insGTGTTGGGTGTGTTTGGTTT	XP_011529141.1:n.259-14_259-13insGTGTTGGGTGTGTTTGGTTT
NM_000390.3:c.703-14_703-13insGTGTTGGGTGTGTTTGGTTT	NP_000381.1:n.703-14_703-13insGTGTTGGGTGTGTTTGGTTT
NM_001320959.1:c.259-14_259-13insGTGTTGGGTGTGTTTGGTTT	NP_001307888.1:n.259-14_259-13insGTGTTGGGTGTGTTTGGTTT
NM_001362517.1:c.259-14_259-13insGTGTTGGGTGTGTTTGGTTT	NP_001349446.1:n.259-14_259-13insGTGTTGGGTGTGTTTGGTTT
NM_001362518.1:c.259-14_259-13insGTGTTGGGTGTGTTTGGTTT	NP_001349447.1:n.259-14_259-13insGTGTTGGGTGTGTTTGGTTT
NM_001362519.1:c.259-14_259-13insGTGTTGGGTGTGTTTGGTTT	NP_001349448.1:n.259-14_259-13insGTGTTGGGTGTGTTTGGTTT
XM_017029242.2:c.703-14_703-13insGTGTTGGGTGTGTTTGGTTT	XP_016884731.1:n.703-14_703-13insGTGTTGGGTGTGTTTGGTTT
XM_017029246.1:c.259-14_259-13insGTGTTGGGTGTGTTTGGTTT	XP_016884735.1:n.259-14_259-13insGTGTTGGGTGTGTTTGGTTT
XM_024452331.1:c.259-14_259-13insGTGTTGGGTGTGTTTGGTTT	XP_024308099.1:n.259-14_259-13insGTGTTGGGTGTGTTTGGTTT
NM_000390.4:c.703-14_703-13insGTGTTGGGTGTGTTTGGTTT MANE Select	NP_000381.1:n.703-14_703-13insGTGTTGGGTGTGTTTGGTTT
NM_001362518.2:c.259-14_259-13insGTGTTGGGTGTGTTTGGTTT	NP_001349447.1:n.259-14_259-13insGTGTTGGGTGTGTTTGGTTT