Canonical Allele Identifier: CA2573157754

Gene: CHCHD10

Linked Data

• ClinVar Variation Id: 1452852
• ClinVar RCV Id: RCV002037768
• dbSNP Id: rs2145927350

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767590_23767591delinsAA , CM000684.2:g.23767590_23767591delinsAA	GRCh38
NC_000022.10:g.24109777_24109778delinsAA , CM000684.1:g.24109777_24109778delinsAA	GRCh37
NC_000022.9:g.22439777_22439778delinsAA	NCBI36
NG_034223.1:g.5382_5383delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.44_45delinsTT MANE Select	ENSP00000418428.3:p.Arg15Leu
ENST00000401675.7:c.44_45delinsTT	ENSP00000384973.3:p.Arg15Leu
ENST00000484558.2:c.44_45delinsTT	ENSP00000418428.2:p.Arg15Leu
ENST00000517886.1:c.42-51_42-50delinsTT	ENSP00000429976.1:n.42-51_42-50delinsTT
ENST00000520222.1:c.41+243_41+244delinsTT	ENSP00000430042.1:n.41+243_41+244delinsTT
NM_001301339.1:c.44_45delinsTT	NP_001288268.1:p.Arg15Leu
NM_213720.2:c.44_45delinsTT	NP_998885.1:p.Arg15Leu
NR_125755.1:n.140-51_140-50delinsTT
NR_125756.1:n.139+243_139+244delinsTT
NM_001301339.2:c.44_45delinsTT	NP_001288268.1:p.Arg15Leu
NM_213720.3:c.44_45delinsTT MANE Select	NP_998885.1:p.Arg15Leu
NR_125755.2:n.140-51_140-50delinsTT
NR_125756.2:n.139+243_139+244delinsTT