Canonical Allele Identifier: CA325479
Gene: CHAMP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217908
ClinVar RCV Id: RCV000202042
dbSNP Id: rs863225076
MyVariant Identifiers: chr13:g.115090361del (hg19) chr13:g.114324886del (hg38)
PubMed: PMID:26340335 PMID:27148580
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.114324886del , CM000675.2:g.114324886del GRCh38
NC_000013.10:g.115090361del , CM000675.1:g.115090361del GRCh37
NC_000013.9:g.114108463del NCBI36
NG_051829.1:g.15552del

Transcript Alleles

HGVS Amino-acid change
ENST00000643483.2:c.1044del ENSP00000496699.1:p.Trp348Ter
ENST00000644294.2:c.1044del ENSP00000495985.2:p.Trp348Ter
ENST00000645174.2:c.1044del ENSP00000494031.2:p.Trp348Ter
ENST00000700527.1:c.1044del ENSP00000515032.1:p.Trp348Ter
ENST00000700528.1:c.1044del ENSP00000515033.1:p.Trp348Ter
ENST00000361283.4:c.1044del MANE Select ENSP00000354730.1:p.Trp348Ter
ENST00000643483.1:c.1044del ENSP00000496699.1:p.Trp348Ter
ENST00000646155.1:n.123+10243del
ENST00000646956.1:n.285+3654del
ENST00000361283.2:c.1044del ENSP00000354730.1:p.Trp348Ter
NM_001164144.1:c.1044del NP_001157616.1:p.Trp348Ter
NM_001164145.1:c.1044del NP_001157617.1:p.Trp348Ter
NM_032436.2:c.1044del NP_115812.1:p.Trp348Ter
NM_001164144.2:c.1044del NP_001157616.1:p.Trp348Ter
NM_001164145.2:c.1044del NP_001157617.1:p.Trp348Ter
NM_032436.3:c.1044del NP_115812.1:p.Trp348Ter
NM_032436.4:c.1044del MANE Select NP_115812.1:p.Trp348Ter
NM_001164144.3:c.1044del NP_001157616.1:p.Trp348Ter
NM_001164145.3:c.1044del NP_001157617.1:p.Trp348Ter
Search 100 bp 5'
Search 100 bp 3'