Canonical Allele Identifier: CA7070733
Gene: CHAMP1 HGNC NCBI

Linked Data

dbSNP Id: rs782215521

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.114324860_114324862del , CM000675.2:g.114324860_114324862del GRCh38
NC_000013.10:g.115090335_115090337del , CM000675.1:g.115090335_115090337del GRCh37
NC_000013.9:g.114108437_114108439del NCBI36
NG_051829.1:g.15526_15528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000643483.2:c.1018_1020del ENSP00000496699.1:p.Ala340del
ENST00000644294.2:c.1018_1020del ENSP00000495985.2:p.Ala340del
ENST00000645174.2:c.1018_1020del ENSP00000494031.2:p.Ala340del
ENST00000700527.1:c.1018_1020del ENSP00000515032.1:p.Ala340del
ENST00000700528.1:c.1018_1020del ENSP00000515033.1:p.Ala340del
ENST00000361283.4:c.1018_1020del MANE Select ENSP00000354730.1:p.Ala340del
ENST00000643483.1:c.1018_1020del ENSP00000496699.1:p.Ala340del
ENST00000646155.1:n.123+10217_123+10219del
ENST00000646956.1:n.285+3628_285+3630del
ENST00000361283.2:c.1018_1020del ENSP00000354730.1:p.Ala340del
NM_001164144.1:c.1018_1020del NP_001157616.1:p.Ala340del
NM_001164145.1:c.1018_1020del NP_001157617.1:p.Ala340del
NM_032436.2:c.1018_1020del NP_115812.1:p.Ala340del
NM_001164144.2:c.1018_1020del NP_001157616.1:p.Ala340del
NM_001164145.2:c.1018_1020del NP_001157617.1:p.Ala340del
NM_032436.3:c.1018_1020del NP_115812.1:p.Ala340del
NM_032436.4:c.1018_1020del MANE Select NP_115812.1:p.Ala340del
NM_001164144.3:c.1018_1020del NP_001157616.1:p.Ala340del
NM_001164145.3:c.1018_1020del NP_001157617.1:p.Ala340del