Canonical Allele Identifier: CA1139667707

Gene: CHM

Linked Data

• ClinVar Variation Id: 966361
• ClinVar RCV Id: RCV001241020
• dbSNP Id: rs1926253608

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85901097del , CM000685.2:g.85901097del	GRCh38
NC_000023.10:g.85156102del , CM000685.1:g.85156102del	GRCh37
NC_000023.9:g.85042758del	NCBI36
NG_009874.2:g.151466del , LRG_699:g.151466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1336del MANE Select	ENSP00000350386.2:p.Arg446ValfsTer12
ENST00000357749.6:c.1336del	ENSP00000350386.2:p.Arg446ValfsTer12
ENST00000467744.2:n.127-38003del
NM_000390.2:c.1336del , LRG_699t1:c.1336del	NP_000381.1:p.Arg446ValfsTer12
XM_006724615.2:c.1273del	XP_006724678.1:p.Arg425ValfsTer12
XM_011530839.1:c.892del	XP_011529141.1:p.Arg298ValfsTer12
NM_000390.3:c.1336del	NP_000381.1:p.Arg446ValfsTer12
NM_001320959.1:c.892del	NP_001307888.1:p.Arg298ValfsTer12
NM_001362517.1:c.892del	NP_001349446.1:p.Arg298ValfsTer12
NM_001362518.1:c.892del	NP_001349447.1:p.Arg298ValfsTer12
NM_001362519.1:c.892del	NP_001349448.1:p.Arg298ValfsTer12
XM_017029242.2:c.1336del	XP_016884731.1:p.Arg446ValfsTer12
XM_017029246.1:c.892del	XP_016884735.1:p.Arg298ValfsTer12
XM_024452331.1:c.892del	XP_024308099.1:p.Arg298ValfsTer12
NM_000390.4:c.1336del MANE Select	NP_000381.1:p.Arg446ValfsTer12
NM_001362518.2:c.892del	NP_001349447.1:p.Arg298ValfsTer12