Canonical Allele Identifier: CA1139532284

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963816_85963817dup , CM000685.2:g.85963816_85963817dup	GRCh38
NC_000023.10:g.85218821_85218822dup , CM000685.1:g.85218821_85218822dup	GRCh37
NC_000023.9:g.85105477_85105478dup	NCBI36
NG_009874.2:g.88746_88747dup , LRG_699:g.88746_88747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.550_551dup MANE Select	ENSP00000350386.2:p.Asp184GlufsTer14
ENST00000357749.6:c.550_551dup	ENSP00000350386.2:p.Asp184GlufsTer14
ENST00000467744.2:n.126+63674_126+63675dup
NM_000390.2:c.550_551dup , LRG_699t1:c.550_551dup	NP_000381.1:p.Asp184GlufsTer14
XM_006724615.2:c.487_488dup	XP_006724678.1:p.Asp163GlufsTer14
XM_011530839.1:c.106_107dup	XP_011529141.1:p.Asp36GlufsTer14
NM_000390.3:c.550_551dup	NP_000381.1:p.Asp184GlufsTer14
NM_001320959.1:c.106_107dup	NP_001307888.1:p.Asp36GlufsTer14
NM_001362517.1:c.106_107dup	NP_001349446.1:p.Asp36GlufsTer14
NM_001362518.1:c.106_107dup	NP_001349447.1:p.Asp36GlufsTer14
NM_001362519.1:c.106_107dup	NP_001349448.1:p.Asp36GlufsTer14
XM_017029242.2:c.550_551dup	XP_016884731.1:p.Asp184GlufsTer14
XM_017029246.1:c.106_107dup	XP_016884735.1:p.Asp36GlufsTer14
XM_024452331.1:c.106_107dup	XP_024308099.1:p.Asp36GlufsTer14
NM_000390.4:c.550_551dup MANE Select	NP_000381.1:p.Asp184GlufsTer14
NM_001362518.2:c.106_107dup	NP_001349447.1:p.Asp36GlufsTer14