Canonical Allele Identifier: CA658770497

Gene: CHAMP1

Linked Data

• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114324800_114324801del , CM000675.2:g.114324800_114324801del	GRCh38
NC_000013.10:g.115090275_115090276del , CM000675.1:g.115090275_115090276del	GRCh37
NC_000013.9:g.114108377_114108378del	NCBI36
NG_051829.1:g.15466_15467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.958_959del	ENSP00000496699.1:p.Pro320Ter
ENST00000644294.2:c.958_959del	ENSP00000495985.2:p.Pro320Ter
ENST00000645174.2:c.958_959del	ENSP00000494031.2:p.Pro320Ter
ENST00000700527.1:c.958_959del	ENSP00000515032.1:p.Pro320Ter
ENST00000700528.1:c.958_959del	ENSP00000515033.1:p.Pro320Ter
ENST00000361283.4:c.958_959del MANE Select	ENSP00000354730.1:p.Pro320Ter
ENST00000643483.1:c.958_959del	ENSP00000496699.1:p.Pro320Ter
ENST00000646155.1:n.123+10157_123+10158del
ENST00000646956.1:n.285+3568_285+3569del
ENST00000361283.2:c.958_959del	ENSP00000354730.1:p.Pro320Ter
NM_001164144.1:c.958_959del	NP_001157616.1:p.Pro320Ter
NM_001164145.1:c.958_959del	NP_001157617.1:p.Pro320Ter
NM_032436.2:c.958_959del	NP_115812.1:p.Pro320Ter
NM_001164144.2:c.958_959del	NP_001157616.1:p.Pro320Ter
NM_001164145.2:c.958_959del	NP_001157617.1:p.Pro320Ter
NM_032436.3:c.958_959del	NP_115812.1:p.Pro320Ter
NM_032436.4:c.958_959del MANE Select	NP_115812.1:p.Pro320Ter
NM_001164144.3:c.958_959del	NP_001157616.1:p.Pro320Ter
NM_001164145.3:c.958_959del	NP_001157617.1:p.Pro320Ter