Canonical Allele Identifier: CA1139667681

Gene: CHM

Linked Data

• ClinVar Variation Id: 813165
• ClinVar RCV Id: RCV001199665
• dbSNP Id: rs1930438584

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963949del , CM000685.2:g.85963949del	GRCh38
NC_000023.10:g.85218954del , CM000685.1:g.85218954del	GRCh37
NC_000023.9:g.85105610del	NCBI36
NG_009874.2:g.88615del , LRG_699:g.88615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.419del MANE Select	ENSP00000350386.2:p.Pro140LeufsTer7
ENST00000357749.6:c.419del	ENSP00000350386.2:p.Pro140LeufsTer7
ENST00000467744.2:n.126+63543del
NM_000390.2:c.419del , LRG_699t1:c.419del	NP_000381.1:p.Pro140LeufsTer7
XM_006724615.2:c.356del	XP_006724678.1:p.Pro119LeufsTer7
XM_011530839.1:c.-26del	XP_011529141.1:n.-26del
NM_000390.3:c.419del	NP_000381.1:p.Pro140LeufsTer7
NM_001320959.1:c.-26del	NP_001307888.1:n.-26del
NM_001362517.1:c.-26del	NP_001349446.1:n.-26del
NM_001362518.1:c.-26del	NP_001349447.1:n.-26del
NM_001362519.1:c.-26del	NP_001349448.1:n.-26del
XM_017029242.2:c.419del	XP_016884731.1:p.Pro140LeufsTer7
XM_017029246.1:c.-26del	XP_016884735.1:n.-26del
XM_024452331.1:c.-26del	XP_024308099.1:n.-26del
NM_000390.4:c.419del MANE Select	NP_000381.1:p.Pro140LeufsTer7
NM_001362518.2:c.-26del	NP_001349447.1:n.-26del