Canonical Allele Identifier: CA2695235278

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963837_85963840delinsCACT , CM000685.2:g.85963837_85963840delinsCACT	GRCh38
NC_000023.10:g.85218842_85218845delinsCACT , CM000685.1:g.85218842_85218845delinsCACT	GRCh37
NC_000023.9:g.85105498_85105501delinsCACT	NCBI36
NG_009874.2:g.88723_88726delinsAGTG , LRG_699:g.88723_88726delinsAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.527_530delinsAGTG MANE Select	ENSP00000350386.2:p.Gly176GlufsTer2
ENST00000357749.6:c.527_530delinsAGTG	ENSP00000350386.2:p.Gly176GlufsTer2
ENST00000467744.2:n.126+63651_126+63654delinsAGTG
NM_000390.2:c.527_530delinsAGTG , LRG_699t1:c.527_530delinsAGTG	NP_000381.1:p.Gly176GlufsTer2
XM_006724615.2:c.464_467delinsAGTG	XP_006724678.1:p.Gly155GlufsTer2
XM_011530839.1:c.83_86delinsAGTG	XP_011529141.1:p.Gly28GlufsTer2
NM_000390.3:c.527_530delinsAGTG	NP_000381.1:p.Gly176GlufsTer2
NM_001320959.1:c.83_86delinsAGTG	NP_001307888.1:p.Gly28GlufsTer2
NM_001362517.1:c.83_86delinsAGTG	NP_001349446.1:p.Gly28GlufsTer2
NM_001362518.1:c.83_86delinsAGTG	NP_001349447.1:p.Gly28GlufsTer2
NM_001362519.1:c.83_86delinsAGTG	NP_001349448.1:p.Gly28GlufsTer2
XM_017029242.2:c.527_530delinsAGTG	XP_016884731.1:p.Gly176GlufsTer2
XM_017029246.1:c.83_86delinsAGTG	XP_016884735.1:p.Gly28GlufsTer2
XM_024452331.1:c.83_86delinsAGTG	XP_024308099.1:p.Gly28GlufsTer2
NM_000390.4:c.527_530delinsAGTG MANE Select	NP_000381.1:p.Gly176GlufsTer2
NM_001362518.2:c.83_86delinsAGTG	NP_001349447.1:p.Gly28GlufsTer2