Canonical Allele Identifier: CA2442478950

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85959110_85959112delinsAAC , CM000685.2:g.85959110_85959112delinsAAC	GRCh38
NC_000023.10:g.85214115_85214117delinsAAC , CM000685.1:g.85214115_85214117delinsAAC	GRCh37
NC_000023.9:g.85100771_85100773delinsAAC	NCBI36
NG_009874.2:g.93451_93453delinsGTT , LRG_699:g.93451_93453delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.703-135_703-133delinsGTT MANE Select	ENSP00000350386.2:n.703-135_703-133delinsGTT
ENST00000357749.6:c.703-135_703-133delinsGTT	ENSP00000350386.2:n.703-135_703-133delinsGTT
ENST00000467744.2:n.126+68379_126+68381delinsGTT
NM_000390.2:c.703-135_703-133delinsGTT , LRG_699t1:c.703-135_703-133delinsGTT	NP_000381.1:n.703-135_703-133delinsGTT
XM_006724615.2:c.640-135_640-133delinsGTT	XP_006724678.1:n.640-135_640-133delinsGTT
XM_011530839.1:c.259-135_259-133delinsGTT	XP_011529141.1:n.259-135_259-133delinsGTT
NM_000390.3:c.703-135_703-133delinsGTT	NP_000381.1:n.703-135_703-133delinsGTT
NM_001320959.1:c.259-135_259-133delinsGTT	NP_001307888.1:n.259-135_259-133delinsGTT
NM_001362517.1:c.259-135_259-133delinsGTT	NP_001349446.1:n.259-135_259-133delinsGTT
NM_001362518.1:c.259-135_259-133delinsGTT	NP_001349447.1:n.259-135_259-133delinsGTT
NM_001362519.1:c.259-135_259-133delinsGTT	NP_001349448.1:n.259-135_259-133delinsGTT
XM_017029242.2:c.703-135_703-133delinsGTT	XP_016884731.1:n.703-135_703-133delinsGTT
XM_017029246.1:c.259-135_259-133delinsGTT	XP_016884735.1:n.259-135_259-133delinsGTT
XM_024452331.1:c.259-135_259-133delinsGTT	XP_024308099.1:n.259-135_259-133delinsGTT
NM_000390.4:c.703-135_703-133delinsGTT MANE Select	NP_000381.1:n.703-135_703-133delinsGTT
NM_001362518.2:c.259-135_259-133delinsGTT	NP_001349447.1:n.259-135_259-133delinsGTT