Canonical Allele Identifier: CA2573149509

Gene: CHAMP1

Linked Data

• ClinVar Variation Id: 1687482
• ClinVar RCV Id: RCV002251164
• dbSNP Id: rs2139419505

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114324666_114324670del , CM000675.2:g.114324666_114324670del	GRCh38
NC_000013.10:g.115090141_115090145del , CM000675.1:g.115090141_115090145del	GRCh37
NC_000013.9:g.114108243_114108247del	NCBI36
NG_051829.1:g.15332_15336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.824_828del	ENSP00000496699.1:p.Ser275Ter
ENST00000644294.2:c.824_828del	ENSP00000495985.2:p.Ser275Ter
ENST00000645174.2:c.824_828del	ENSP00000494031.2:p.Ser275Ter
ENST00000700527.1:c.824_828del	ENSP00000515032.1:p.Ser275Ter
ENST00000700528.1:c.824_828del	ENSP00000515033.1:p.Ser275Ter
ENST00000361283.4:c.824_828del MANE Select	ENSP00000354730.1:p.Ser275Ter
ENST00000643483.1:c.824_828del	ENSP00000496699.1:p.Ser275Ter
ENST00000646155.1:n.123+10023_123+10027del
ENST00000646956.1:n.285+3434_285+3438del
ENST00000361283.2:c.824_828del	ENSP00000354730.1:p.Ser275Ter
NM_001164144.1:c.824_828del	NP_001157616.1:p.Ser275Ter
NM_001164145.1:c.824_828del	NP_001157617.1:p.Ser275Ter
NM_032436.2:c.824_828del	NP_115812.1:p.Ser275Ter
NM_001164144.2:c.824_828del	NP_001157616.1:p.Ser275Ter
NM_001164145.2:c.824_828del	NP_001157617.1:p.Ser275Ter
NM_032436.3:c.824_828del	NP_115812.1:p.Ser275Ter
NM_032436.4:c.824_828del MANE Select	NP_115812.1:p.Ser275Ter
NM_001164144.3:c.824_828del	NP_001157616.1:p.Ser275Ter
NM_001164145.3:c.824_828del	NP_001157617.1:p.Ser275Ter