Canonical Allele Identifier: CA2830555186

Gene: CHAMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114325023_114325026del , CM000675.2:g.114325023_114325026del	GRCh38
NC_000013.10:g.115090498_115090501del , CM000675.1:g.115090498_115090501del	GRCh37
NC_000013.9:g.114108600_114108603del	NCBI36
NG_051829.1:g.15689_15692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.1181_1184del	ENSP00000496699.1:p.Pro394GlnfsTer?
ENST00000644294.2:c.1181_1184del	ENSP00000495985.2:p.Pro394GlnfsTer?
ENST00000645174.2:c.1181_1184del	ENSP00000494031.2:p.Pro394GlnfsTer?
ENST00000700527.1:c.1181_1184del	ENSP00000515032.1:p.Pro394GlnfsTer?
ENST00000700528.1:c.1181_1184del	ENSP00000515033.1:p.Pro394GlnfsTer?
ENST00000361283.4:c.1181_1184del MANE Select	ENSP00000354730.1:p.Pro394GlnfsTer?
ENST00000643483.1:c.1181_1184del	ENSP00000496699.1:p.Pro394GlnfsTer?
ENST00000646155.1:n.123+10380_123+10383del
ENST00000646956.1:n.285+3791_285+3794del
ENST00000361283.2:c.1181_1184del	ENSP00000354730.1:p.Pro394GlnfsTer?
NM_001164144.1:c.1181_1184del	NP_001157616.1:p.Pro394GlnfsTer?
NM_001164145.1:c.1181_1184del	NP_001157617.1:p.Pro394GlnfsTer?
NM_032436.2:c.1181_1184del	NP_115812.1:p.Pro394GlnfsTer?
NM_001164144.2:c.1181_1184del	NP_001157616.1:p.Pro394GlnfsTer?
NM_001164145.2:c.1181_1184del	NP_001157617.1:p.Pro394GlnfsTer?
NM_032436.3:c.1181_1184del	NP_115812.1:p.Pro394GlnfsTer?
NM_032436.4:c.1181_1184del MANE Select	NP_115812.1:p.Pro394GlnfsTer?
NM_001164144.3:c.1181_1184del	NP_001157616.1:p.Pro394GlnfsTer?
NM_001164145.3:c.1181_1184del	NP_001157617.1:p.Pro394GlnfsTer?