Canonical Allele Identifier: CA2120749104

Gene: CHAMP1

Linked Data

• ClinVar Variation Id: 985766
• ClinVar RCV Id: RCV001266843 ; RCV001528191
• dbSNP Id: rs2087233948

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114325401_114325402del , CM000675.2:g.114325401_114325402del	GRCh38
NC_000013.10:g.115090876_115090877del , CM000675.1:g.115090876_115090877del	GRCh37
NC_000013.9:g.114108978_114108979del	NCBI36
NG_051829.1:g.16067_16068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.1559_1560del	ENSP00000496699.1:p.Ser520TyrfsTer4
ENST00000644294.2:c.1559_1560del	ENSP00000495985.2:p.Ser520TyrfsTer4
ENST00000645174.2:c.1559_1560del	ENSP00000494031.2:p.Ser520TyrfsTer4
ENST00000700527.1:c.1559_1560del	ENSP00000515032.1:p.Ser520TyrfsTer4
ENST00000700528.1:c.1559_1560del	ENSP00000515033.1:p.Ser520TyrfsTer4
ENST00000361283.4:c.1559_1560del MANE Select	ENSP00000354730.1:p.Ser520TyrfsTer4
ENST00000643483.1:c.1559_1560del	ENSP00000496699.1:p.Ser520TyrfsTer4
ENST00000646155.1:n.123+10758_123+10759del
ENST00000646956.1:n.285+4169_285+4170del
ENST00000361283.2:c.1559_1560del	ENSP00000354730.1:p.Ser520TyrfsTer4
NM_001164144.1:c.1559_1560del	NP_001157616.1:p.Ser520TyrfsTer4
NM_001164145.1:c.1559_1560del	NP_001157617.1:p.Ser520TyrfsTer4
NM_032436.2:c.1559_1560del	NP_115812.1:p.Ser520TyrfsTer4
NM_001164144.2:c.1559_1560del	NP_001157616.1:p.Ser520TyrfsTer4
NM_001164145.2:c.1559_1560del	NP_001157617.1:p.Ser520TyrfsTer4
NM_032436.3:c.1559_1560del	NP_115812.1:p.Ser520TyrfsTer4
NM_032436.4:c.1559_1560del MANE Select	NP_115812.1:p.Ser520TyrfsTer4
NM_001164144.3:c.1559_1560del	NP_001157616.1:p.Ser520TyrfsTer4
NM_001164145.3:c.1559_1560del	NP_001157617.1:p.Ser520TyrfsTer4