Canonical Allele Identifier: CA2695235276

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963810_85963818delinsAGAAAACT , CM000685.2:g.85963810_85963818delinsAGAAAACT	GRCh38
NC_000023.10:g.85218815_85218823delinsAGAAAACT , CM000685.1:g.85218815_85218823delinsAGAAAACT	GRCh37
NC_000023.9:g.85105471_85105479delinsAGAAAACT	NCBI36
NG_009874.2:g.88745_88753delinsAGTTTTCT , LRG_699:g.88745_88753delinsAGTTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.549_557delinsAGTTTTCT MANE Select	ENSP00000350386.2:p.Asp183GlufsTer14
ENST00000357749.6:c.549_557delinsAGTTTTCT	ENSP00000350386.2:p.Asp183GlufsTer14
ENST00000467744.2:n.126+63673_126+63681delinsAGTTTTCT
NM_000390.2:c.549_557delinsAGTTTTCT , LRG_699t1:c.549_557delinsAGTTTTCT	NP_000381.1:p.Asp183GlufsTer14
XM_006724615.2:c.486_494delinsAGTTTTCT	XP_006724678.1:p.Asp162GlufsTer14
XM_011530839.1:c.105_113delinsAGTTTTCT	XP_011529141.1:p.Asp35GlufsTer14
NM_000390.3:c.549_557delinsAGTTTTCT	NP_000381.1:p.Asp183GlufsTer14
NM_001320959.1:c.105_113delinsAGTTTTCT	NP_001307888.1:p.Asp35GlufsTer14
NM_001362517.1:c.105_113delinsAGTTTTCT	NP_001349446.1:p.Asp35GlufsTer14
NM_001362518.1:c.105_113delinsAGTTTTCT	NP_001349447.1:p.Asp35GlufsTer14
NM_001362519.1:c.105_113delinsAGTTTTCT	NP_001349448.1:p.Asp35GlufsTer14
XM_017029242.2:c.549_557delinsAGTTTTCT	XP_016884731.1:p.Asp183GlufsTer14
XM_017029246.1:c.105_113delinsAGTTTTCT	XP_016884735.1:p.Asp35GlufsTer14
XM_024452331.1:c.105_113delinsAGTTTTCT	XP_024308099.1:p.Asp35GlufsTer14
NM_000390.4:c.549_557delinsAGTTTTCT MANE Select	NP_000381.1:p.Asp183GlufsTer14
NM_001362518.2:c.105_113delinsAGTTTTCT	NP_001349447.1:p.Asp35GlufsTer14