Canonical Allele Identifier: CA2397949078
Gene: CHCHD10 HGNC NCBI

Linked Data

dbSNP Id: rs1926942117

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23767532_23767536del , CM000684.2:g.23767532_23767536del GRCh38
NC_000022.10:g.24109719_24109723del , CM000684.1:g.24109719_24109723del GRCh37
NC_000022.9:g.22439719_22439723del NCBI36
NG_034223.1:g.5440_5444del

Transcript Alleles

HGVS Amino-acid change
ENST00000484558.3:c.102_106del MANE Select ENSP00000418428.3:p.Ala35ArgfsTer?
ENST00000401675.7:c.102_106del ENSP00000384973.3:p.Ala35ArgfsTer?
ENST00000484558.2:c.102_106del ENSP00000418428.2:p.Ala35ArgfsTer?
ENST00000517886.1:c.49_53del ENSP00000429976.1:p.Ser17ProfsTer20
ENST00000520222.1:c.41+301_41+305del ENSP00000430042.1:n.41+301_41+305del
NM_001301339.1:c.102_106del NP_001288268.1:p.Ala35ArgfsTer?
NM_213720.2:c.102_106del NP_998885.1:p.Ala35ArgfsTer?
NR_125755.1:n.147_151del
NR_125756.1:n.139+301_139+305del
NM_001301339.2:c.102_106del NP_001288268.1:p.Ala35ArgfsTer?
NM_213720.3:c.102_106del MANE Select NP_998885.1:p.Ala35ArgfsTer?
NR_125755.2:n.147_151del
NR_125756.2:n.139+301_139+305del