Canonical Allele Identifier: CA916082501

Gene: CHM

Linked Data

• ClinVar Variation Id: 867034
• ClinVar RCV Id: RCV001075511
• dbSNP Id: rs1930424797

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963832dup , CM000685.2:g.85963832dup	GRCh38
NC_000023.10:g.85218837dup , CM000685.1:g.85218837dup	GRCh37
NC_000023.9:g.85105493dup	NCBI36
NG_009874.2:g.88731dup , LRG_699:g.88731dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.535dup MANE Select	ENSP00000350386.2:p.Glu179GlyfsTer5
ENST00000357749.6:c.535dup	ENSP00000350386.2:p.Glu179GlyfsTer5
ENST00000467744.2:n.126+63659dup
NM_000390.2:c.535dup , LRG_699t1:c.535dup	NP_000381.1:p.Glu179GlyfsTer5
XM_006724615.2:c.472dup	XP_006724678.1:p.Glu158GlyfsTer5
XM_011530839.1:c.91dup	XP_011529141.1:p.Glu31GlyfsTer5
NM_000390.3:c.535dup	NP_000381.1:p.Glu179GlyfsTer5
NM_001320959.1:c.91dup	NP_001307888.1:p.Glu31GlyfsTer5
NM_001362517.1:c.91dup	NP_001349446.1:p.Glu31GlyfsTer5
NM_001362518.1:c.91dup	NP_001349447.1:p.Glu31GlyfsTer5
NM_001362519.1:c.91dup	NP_001349448.1:p.Glu31GlyfsTer5
XM_017029242.2:c.535dup	XP_016884731.1:p.Glu179GlyfsTer5
XM_017029246.1:c.91dup	XP_016884735.1:p.Glu31GlyfsTer5
XM_024452331.1:c.91dup	XP_024308099.1:p.Glu31GlyfsTer5
NM_000390.4:c.535dup MANE Select	NP_000381.1:p.Glu179GlyfsTer5
NM_001362518.2:c.91dup	NP_001349447.1:p.Glu31GlyfsTer5