Canonical Allele Identifier: CA2499226906

Gene: CHM

Linked Data

• ClinVar Variation Id: 1073370
• ClinVar RCV Id: RCV001386356
• dbSNP Id: rs2147667298

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958865del , CM000685.2:g.85958865del	GRCh38
NC_000023.10:g.85213870del , CM000685.1:g.85213870del	GRCh37
NC_000023.9:g.85100526del	NCBI36
NG_009874.2:g.93699del , LRG_699:g.93699del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.816del MANE Select	ENSP00000350386.2:p.Glu272AspfsTer19
ENST00000357749.6:c.816del	ENSP00000350386.2:p.Glu272AspfsTer19
ENST00000467744.2:n.126+68627del
NM_000390.2:c.816del , LRG_699t1:c.816del	NP_000381.1:p.Glu272AspfsTer19
XM_006724615.2:c.753del	XP_006724678.1:p.Glu251AspfsTer19
XM_011530839.1:c.372del	XP_011529141.1:p.Glu124AspfsTer19
NM_000390.3:c.816del	NP_000381.1:p.Glu272AspfsTer19
NM_001320959.1:c.372del	NP_001307888.1:p.Glu124AspfsTer19
NM_001362517.1:c.372del	NP_001349446.1:p.Glu124AspfsTer19
NM_001362518.1:c.372del	NP_001349447.1:p.Glu124AspfsTer19
NM_001362519.1:c.372del	NP_001349448.1:p.Glu124AspfsTer19
XM_017029242.2:c.816del	XP_016884731.1:p.Glu272AspfsTer19
XM_017029246.1:c.372del	XP_016884735.1:p.Glu124AspfsTer19
XM_024452331.1:c.372del	XP_024308099.1:p.Glu124AspfsTer19
NM_000390.4:c.816del MANE Select	NP_000381.1:p.Glu272AspfsTer19
NM_001362518.2:c.372del	NP_001349447.1:p.Glu124AspfsTer19