Canonical Allele Identifier: CA2580102040

Gene: CHM

Linked Data

• ClinVar Variation Id: 2444287
• ClinVar RCV Id: RCV003153085

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963983del , CM000685.2:g.85963983del	GRCh38
NC_000023.10:g.85218988del , CM000685.1:g.85218988del	GRCh37
NC_000023.9:g.85105644del	NCBI36
NG_009874.2:g.88582del , LRG_699:g.88582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.386del MANE Select	ENSP00000350386.2:p.Asn129ThrfsTer18
ENST00000357749.6:c.386del	ENSP00000350386.2:p.Asn129ThrfsTer18
ENST00000467744.2:n.126+63510del
NM_000390.2:c.386del , LRG_699t1:c.386del	NP_000381.1:p.Asn129ThrfsTer18
XM_006724615.2:c.323del	XP_006724678.1:p.Asn108ThrfsTer18
XM_011530839.1:c.-59del	XP_011529141.1:n.-59del
NM_000390.3:c.386del	NP_000381.1:p.Asn129ThrfsTer18
NM_001320959.1:c.-59del	NP_001307888.1:n.-59del
NM_001362517.1:c.-59del	NP_001349446.1:n.-59del
NM_001362518.1:c.-59del	NP_001349447.1:n.-59del
NM_001362519.1:c.-59del	NP_001349448.1:n.-59del
XM_017029242.2:c.386del	XP_016884731.1:p.Asn129ThrfsTer18
XM_017029246.1:c.-59del	XP_016884735.1:n.-59del
XM_024452331.1:c.-59del	XP_024308099.1:n.-59del
NM_000390.4:c.386del MANE Select	NP_000381.1:p.Asn129ThrfsTer18
NM_001362518.2:c.-59del	NP_001349447.1:n.-59del