Canonical Allele Identifier: CA2695235689

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85901144del , CM000685.2:g.85901144del	GRCh38
NC_000023.10:g.85156149del , CM000685.1:g.85156149del	GRCh37
NC_000023.9:g.85042805del	NCBI36
NG_009874.2:g.151419del , LRG_699:g.151419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1289del MANE Select	ENSP00000350386.2:p.Glu430GlyfsTer28
ENST00000357749.6:c.1289del	ENSP00000350386.2:p.Glu430GlyfsTer28
ENST00000467744.2:n.127-38050del
NM_000390.2:c.1289del , LRG_699t1:c.1289del	NP_000381.1:p.Glu430GlyfsTer28
XM_006724615.2:c.1226del	XP_006724678.1:p.Glu409GlyfsTer28
XM_011530839.1:c.845del	XP_011529141.1:p.Glu282GlyfsTer28
NM_000390.3:c.1289del	NP_000381.1:p.Glu430GlyfsTer28
NM_001320959.1:c.845del	NP_001307888.1:p.Glu282GlyfsTer28
NM_001362517.1:c.845del	NP_001349446.1:p.Glu282GlyfsTer28
NM_001362518.1:c.845del	NP_001349447.1:p.Glu282GlyfsTer28
NM_001362519.1:c.845del	NP_001349448.1:p.Glu282GlyfsTer28
XM_017029242.2:c.1289del	XP_016884731.1:p.Glu430GlyfsTer28
XM_017029246.1:c.845del	XP_016884735.1:p.Glu282GlyfsTer28
XM_024452331.1:c.845del	XP_024308099.1:p.Glu282GlyfsTer28
NM_000390.4:c.1289del MANE Select	NP_000381.1:p.Glu430GlyfsTer28
NM_001362518.2:c.845del	NP_001349447.1:p.Glu282GlyfsTer28