Canonical Allele Identifier: CA2580102027

Gene: CHM

Linked Data

• ClinVar Variation Id: 2077088
• ClinVar RCV Id: RCV002972651

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963841dup , CM000685.2:g.85963841dup	GRCh38
NC_000023.10:g.85218846dup , CM000685.1:g.85218846dup	GRCh37
NC_000023.9:g.85105502dup	NCBI36
NG_009874.2:g.88725dup , LRG_699:g.88725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.529dup MANE Select	ENSP00000350386.2:p.Glu177GlyfsTer7
ENST00000357749.6:c.529dup	ENSP00000350386.2:p.Glu177GlyfsTer7
ENST00000467744.2:n.126+63653dup
NM_000390.2:c.529dup , LRG_699t1:c.529dup	NP_000381.1:p.Glu177GlyfsTer7
XM_006724615.2:c.466dup	XP_006724678.1:p.Glu156GlyfsTer7
XM_011530839.1:c.85dup	XP_011529141.1:p.Glu29GlyfsTer7
NM_000390.3:c.529dup	NP_000381.1:p.Glu177GlyfsTer7
NM_001320959.1:c.85dup	NP_001307888.1:p.Glu29GlyfsTer7
NM_001362517.1:c.85dup	NP_001349446.1:p.Glu29GlyfsTer7
NM_001362518.1:c.85dup	NP_001349447.1:p.Glu29GlyfsTer7
NM_001362519.1:c.85dup	NP_001349448.1:p.Glu29GlyfsTer7
XM_017029242.2:c.529dup	XP_016884731.1:p.Glu177GlyfsTer7
XM_017029246.1:c.85dup	XP_016884735.1:p.Glu29GlyfsTer7
XM_024452331.1:c.85dup	XP_024308099.1:p.Glu29GlyfsTer7
NM_000390.4:c.529dup MANE Select	NP_000381.1:p.Glu177GlyfsTer7
NM_001362518.2:c.85dup	NP_001349447.1:p.Glu29GlyfsTer7