Canonical Allele Identifier: CA2674823618

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761635-A-AGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761636_110761638dup , CM000667.2:g.110761636_110761638dup	GRCh38
NC_000005.9:g.110097336_110097338dup , CM000667.1:g.110097336_110097338dup	GRCh37
NC_000005.8:g.110125235_110125237dup	NCBI36
NG_051334.1:g.28501_28503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1111_1113dup MANE Select	ENSP00000348211.3:p.Asp371_Cys372insAsp
ENST00000355943.7:c.1111_1113dup	ENSP00000348211.3:p.Asp371_Cys372insAsp
ENST00000447245.6:c.868_870dup	ENSP00000399717.2:p.Asp290_Cys291insAsp
ENST00000502462.6:n.1427_1429dup
ENST00000504098.1:c.673_675dup	ENSP00000425708.1:p.Asp225_Cys226insAsp
ENST00000509432.1:c.472_474dup	ENSP00000426604.1:p.Asp158_Cys159insAsp
ENST00000513706.2:n.2711_2713dup
ENST00000513807.5:c.625_627dup	ENSP00000421134.1:p.Asp209_Cys210insAsp
NM_001303249.1:c.868_870dup	NP_001290178.1:p.Asp290_Cys291insAsp
NM_001303250.1:c.838_840dup	NP_001290179.1:p.Asp280_Cys281insAsp
NM_138773.2:c.1111_1113dup	NP_620128.1:p.Asp371_Cys372insAsp
NM_001303249.2:c.868_870dup	NP_001290178.1:p.Asp290_Cys291insAsp
NM_001303250.2:c.838_840dup	NP_001290179.1:p.Asp280_Cys281insAsp
NM_138773.3:c.1111_1113dup	NP_620128.1:p.Asp371_Cys372insAsp
NR_138151.1:n.1385_1387dup
NM_138773.4:c.1111_1113dup MANE Select	NP_620128.1:p.Asp371_Cys372insAsp
NM_001303249.3:c.868_870dup	NP_001290178.1:p.Asp290_Cys291insAsp
NM_001303250.3:c.838_840dup	NP_001290179.1:p.Asp280_Cys281insAsp
NR_138151.2:n.1350_1352dup