Canonical Allele Identifier: CA2555987838

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958909_85958911del , CM000685.2:g.85958909_85958911del	GRCh38
NC_000023.10:g.85213914_85213916del , CM000685.1:g.85213914_85213916del	GRCh37
NC_000023.9:g.85100570_85100572del	NCBI36
NG_009874.2:g.93652_93654del , LRG_699:g.93652_93654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.769_771del MANE Select	ENSP00000350386.2:p.Phe257del
ENST00000357749.6:c.769_771del	ENSP00000350386.2:p.Phe257del
ENST00000467744.2:n.126+68580_126+68582del
NM_000390.2:c.769_771del , LRG_699t1:c.769_771del	NP_000381.1:p.Phe257del
XM_006724615.2:c.706_708del	XP_006724678.1:p.Phe236del
XM_011530839.1:c.325_327del	XP_011529141.1:p.Phe109del
NM_000390.3:c.769_771del	NP_000381.1:p.Phe257del
NM_001320959.1:c.325_327del	NP_001307888.1:p.Phe109del
NM_001362517.1:c.325_327del	NP_001349446.1:p.Phe109del
NM_001362518.1:c.325_327del	NP_001349447.1:p.Phe109del
NM_001362519.1:c.325_327del	NP_001349448.1:p.Phe109del
XM_017029242.2:c.769_771del	XP_016884731.1:p.Phe257del
XM_017029246.1:c.325_327del	XP_016884735.1:p.Phe109del
XM_024452331.1:c.325_327del	XP_024308099.1:p.Phe109del
NM_000390.4:c.769_771del MANE Select	NP_000381.1:p.Phe257del
NM_001362518.2:c.325_327del	NP_001349447.1:p.Phe109del