Canonical Allele Identifier: CA2825002173

Gene: CHAMP1

Linked Data

• ClinVar Variation Id: 3233724
• ClinVar RCV Id: RCV004526574

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114325842_114325843del , CM000675.2:g.114325842_114325843del	GRCh38
NC_000013.10:g.115091317_115091318del , CM000675.1:g.115091317_115091318del	GRCh37
NC_000013.9:g.114109419_114109420del	NCBI36
NG_051829.1:g.16508_16509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.2000_2001del	ENSP00000496699.1:p.Lys667ArgfsTer8
ENST00000644294.2:c.2000_2001del	ENSP00000495985.2:p.Lys667ArgfsTer8
ENST00000645174.2:c.2000_2001del	ENSP00000494031.2:p.Lys667ArgfsTer8
ENST00000700527.1:c.2000_2001del	ENSP00000515032.1:p.Lys667ArgfsTer8
ENST00000700528.1:c.2000_2001del	ENSP00000515033.1:p.Lys667ArgfsTer8
ENST00000361283.4:c.2000_2001del MANE Select	ENSP00000354730.1:p.Lys667ArgfsTer8
ENST00000643483.1:c.2000_2001del	ENSP00000496699.1:p.Lys667ArgfsTer8
ENST00000646155.1:n.123+11199_123+11200del
ENST00000646956.1:n.285+4610_285+4611del
ENST00000361283.2:c.2000_2001del	ENSP00000354730.1:p.Lys667ArgfsTer8
NM_001164144.1:c.2000_2001del	NP_001157616.1:p.Lys667ArgfsTer8
NM_001164145.1:c.2000_2001del	NP_001157617.1:p.Lys667ArgfsTer8
NM_032436.2:c.2000_2001del	NP_115812.1:p.Lys667ArgfsTer8
NM_001164144.2:c.2000_2001del	NP_001157616.1:p.Lys667ArgfsTer8
NM_001164145.2:c.2000_2001del	NP_001157617.1:p.Lys667ArgfsTer8
NM_032436.3:c.2000_2001del	NP_115812.1:p.Lys667ArgfsTer8
NM_032436.4:c.2000_2001del MANE Select	NP_115812.1:p.Lys667ArgfsTer8
NM_001164144.3:c.2000_2001del	NP_001157616.1:p.Lys667ArgfsTer8
NM_001164145.3:c.2000_2001del	NP_001157617.1:p.Lys667ArgfsTer8