Canonical Allele Identifier: CA16043323
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 372324
ClinVar RCV Id: RCV000412929
dbSNP Id: rs1057517717

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85894261dup , CM000685.2:g.85894261dup GRCh38
NC_000023.10:g.85149266dup , CM000685.1:g.85149266dup GRCh37
NC_000023.9:g.85035922dup NCBI36
NG_009874.2:g.158302dup , LRG_699:g.158302dup

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.1437dup MANE Select ENSP00000350386.2:p.Glu480ArgfsTer12
ENST00000357749.6:c.1437dup ENSP00000350386.2:p.Glu480ArgfsTer12
ENST00000467744.2:n.127-31167dup
NM_000390.2:c.1437dup , LRG_699t1:c.1437dup NP_000381.1:p.Glu480ArgfsTer12
XM_006724615.2:c.1374dup XP_006724678.1:p.Glu459ArgfsTer12
XM_011530839.1:c.993dup XP_011529141.1:p.Glu332ArgfsTer12
NM_000390.3:c.1437dup NP_000381.1:p.Glu480ArgfsTer12
NM_001320959.1:c.993dup NP_001307888.1:p.Glu332ArgfsTer12
NM_001362517.1:c.993dup NP_001349446.1:p.Glu332ArgfsTer12
NM_001362518.1:c.993dup NP_001349447.1:p.Glu332ArgfsTer12
NM_001362519.1:c.993dup NP_001349448.1:p.Glu332ArgfsTer12
XM_017029242.2:c.1437dup XP_016884731.1:p.Glu480ArgfsTer12
XM_017029246.1:c.993dup XP_016884735.1:p.Glu332ArgfsTer12
XM_024452331.1:c.993dup XP_024308099.1:p.Glu332ArgfsTer12
NM_000390.4:c.1437dup MANE Select NP_000381.1:p.Glu480ArgfsTer12
NM_001362518.2:c.993dup NP_001349447.1:p.Glu332ArgfsTer12