Canonical Allele Identifier: CA2740092234

Gene: CHM

Linked Data

• ClinVar Variation Id: 3028622
• ClinVar RCV Id: RCV003890487

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963837dup , CM000685.2:g.85963837dup	GRCh38
NC_000023.10:g.85218842dup , CM000685.1:g.85218842dup	GRCh37
NC_000023.9:g.85105498dup	NCBI36
NG_009874.2:g.88730dup , LRG_699:g.88730dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.534dup MANE Select	ENSP00000350386.2:p.Glu179ArgfsTer5
ENST00000357749.6:c.534dup	ENSP00000350386.2:p.Glu179ArgfsTer5
ENST00000467744.2:n.126+63658dup
NM_000390.2:c.534dup , LRG_699t1:c.534dup	NP_000381.1:p.Glu179ArgfsTer5
XM_006724615.2:c.471dup	XP_006724678.1:p.Glu158ArgfsTer5
XM_011530839.1:c.90dup	XP_011529141.1:p.Glu31ArgfsTer5
NM_000390.3:c.534dup	NP_000381.1:p.Glu179ArgfsTer5
NM_001320959.1:c.90dup	NP_001307888.1:p.Glu31ArgfsTer5
NM_001362517.1:c.90dup	NP_001349446.1:p.Glu31ArgfsTer5
NM_001362518.1:c.90dup	NP_001349447.1:p.Glu31ArgfsTer5
NM_001362519.1:c.90dup	NP_001349448.1:p.Glu31ArgfsTer5
XM_017029242.2:c.534dup	XP_016884731.1:p.Glu179ArgfsTer5
XM_017029246.1:c.90dup	XP_016884735.1:p.Glu31ArgfsTer5
XM_024452331.1:c.90dup	XP_024308099.1:p.Glu31ArgfsTer5
NM_000390.4:c.534dup MANE Select	NP_000381.1:p.Glu179ArgfsTer5
NM_001362518.2:c.90dup	NP_001349447.1:p.Glu31ArgfsTer5