Canonical Allele Identifier: CA2740092235

Gene: CHM

Linked Data

• ClinVar Variation Id: 3028623
• ClinVar RCV Id: RCV003890488

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963860del , CM000685.2:g.85963860del	GRCh38
NC_000023.10:g.85218865del , CM000685.1:g.85218865del	GRCh37
NC_000023.9:g.85105521del	NCBI36
NG_009874.2:g.88705del , LRG_699:g.88705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.509del MANE Select	ENSP00000350386.2:p.Asn170MetfsTer5
ENST00000357749.6:c.509del	ENSP00000350386.2:p.Asn170MetfsTer5
ENST00000467744.2:n.126+63633del
NM_000390.2:c.509del , LRG_699t1:c.509del	NP_000381.1:p.Asn170MetfsTer5
XM_006724615.2:c.446del	XP_006724678.1:p.Asn149MetfsTer5
XM_011530839.1:c.65del	XP_011529141.1:p.Asn22MetfsTer5
NM_000390.3:c.509del	NP_000381.1:p.Asn170MetfsTer5
NM_001320959.1:c.65del	NP_001307888.1:p.Asn22MetfsTer5
NM_001362517.1:c.65del	NP_001349446.1:p.Asn22MetfsTer5
NM_001362518.1:c.65del	NP_001349447.1:p.Asn22MetfsTer5
NM_001362519.1:c.65del	NP_001349448.1:p.Asn22MetfsTer5
XM_017029242.2:c.509del	XP_016884731.1:p.Asn170MetfsTer5
XM_017029246.1:c.65del	XP_016884735.1:p.Asn22MetfsTer5
XM_024452331.1:c.65del	XP_024308099.1:p.Asn22MetfsTer5
NM_000390.4:c.509del MANE Select	NP_000381.1:p.Asn170MetfsTer5
NM_001362518.2:c.65del	NP_001349447.1:p.Asn22MetfsTer5