Canonical Allele Identifier: CA2739291826

Gene: CHAMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114324571_114324572insG , CM000675.2:g.114324571_114324572insG	GRCh38
NC_000013.10:g.115090046_115090047insG , CM000675.1:g.115090046_115090047insG	GRCh37
NC_000013.9:g.114108148_114108149insG	NCBI36
NG_051829.1:g.15237_15238insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.729_730insG	ENSP00000496699.1:p.Ser244ValfsTer?
ENST00000644294.2:c.729_730insG	ENSP00000495985.2:p.Ser244ValfsTer?
ENST00000645174.2:c.729_730insG	ENSP00000494031.2:p.Ser244ValfsTer?
ENST00000700527.1:c.729_730insG	ENSP00000515032.1:p.Ser244ValfsTer?
ENST00000700528.1:c.729_730insG	ENSP00000515033.1:p.Ser244ValfsTer?
ENST00000361283.4:c.729_730insG MANE Select	ENSP00000354730.1:p.Ser244ValfsTer?
ENST00000643483.1:c.729_730insG	ENSP00000496699.1:p.Ser244ValfsTer?
ENST00000646155.1:n.123+9928_123+9929insG
ENST00000646956.1:n.285+3339_285+3340insG
ENST00000361283.2:c.729_730insG	ENSP00000354730.1:p.Ser244ValfsTer?
NM_001164144.1:c.729_730insG	NP_001157616.1:p.Ser244ValfsTer?
NM_001164145.1:c.729_730insG	NP_001157617.1:p.Ser244ValfsTer?
NM_032436.2:c.729_730insG	NP_115812.1:p.Ser244ValfsTer?
NM_001164144.2:c.729_730insG	NP_001157616.1:p.Ser244ValfsTer?
NM_001164145.2:c.729_730insG	NP_001157617.1:p.Ser244ValfsTer?
NM_032436.3:c.729_730insG	NP_115812.1:p.Ser244ValfsTer?
NM_032436.4:c.729_730insG MANE Select	NP_115812.1:p.Ser244ValfsTer?
NM_001164144.3:c.729_730insG	NP_001157616.1:p.Ser244ValfsTer?
NM_001164145.3:c.729_730insG	NP_001157617.1:p.Ser244ValfsTer?