Canonical Allele Identifier: CA2573053782

Gene: CHAMP1

Linked Data

• ClinVar Variation Id: 1164024
• ClinVar RCV Id: RCV001788507
• dbSNP Id: rs2139422391

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114325837dup , CM000675.2:g.114325837dup	GRCh38
NC_000013.10:g.115091312dup , CM000675.1:g.115091312dup	GRCh37
NC_000013.9:g.114109414dup	NCBI36
NG_051829.1:g.16503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.1995dup	ENSP00000496699.1:p.Ser666Ter
ENST00000644294.2:c.1995dup	ENSP00000495985.2:p.Ser666Ter
ENST00000645174.2:c.1995dup	ENSP00000494031.2:p.Ser666Ter
ENST00000700527.1:c.1995dup	ENSP00000515032.1:p.Ser666Ter
ENST00000700528.1:c.1995dup	ENSP00000515033.1:p.Ser666Ter
ENST00000361283.4:c.1995dup MANE Select	ENSP00000354730.1:p.Ser666Ter
ENST00000643483.1:c.1995dup	ENSP00000496699.1:p.Ser666Ter
ENST00000646155.1:n.123+11194dup
ENST00000646956.1:n.285+4605dup
ENST00000361283.2:c.1995dup	ENSP00000354730.1:p.Ser666Ter
NM_001164144.1:c.1995dup	NP_001157616.1:p.Ser666Ter
NM_001164145.1:c.1995dup	NP_001157617.1:p.Ser666Ter
NM_032436.2:c.1995dup	NP_115812.1:p.Ser666Ter
NM_001164144.2:c.1995dup	NP_001157616.1:p.Ser666Ter
NM_001164145.2:c.1995dup	NP_001157617.1:p.Ser666Ter
NM_032436.3:c.1995dup	NP_115812.1:p.Ser666Ter
NM_032436.4:c.1995dup MANE Select	NP_115812.1:p.Ser666Ter
NM_001164144.3:c.1995dup	NP_001157616.1:p.Ser666Ter
NM_001164145.3:c.1995dup	NP_001157617.1:p.Ser666Ter