Canonical Allele Identifier: CA125344947

Gene: SLC25A46

Linked Data

• dbSNP Id: rs562293752
• gnomAD v2: 5-110097540-A-AGTT
• gnomAD v3: 5-110761840-A-AGTT
• gnomAD v4: 5-110761840-A-AGTT
• MyVariant Identifiers: chr5:g.110097540_110097541insGTT (hg19) ; chr5:g.110761840_110761841insGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761841_110761843dup , CM000667.2:g.110761841_110761843dup	GRCh38
NC_000005.9:g.110097541_110097543dup , CM000667.1:g.110097541_110097543dup	GRCh37
NC_000005.8:g.110125440_110125442dup	NCBI36
NG_051334.1:g.28706_28708dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.*59_*61dup MANE Select	ENSP00000348211.3:n.*59_*61dup
ENST00000355943.7:c.*59_*61dup	ENSP00000348211.3:n.*59_*61dup
ENST00000447245.6:c.*59_*61dup	ENSP00000399717.2:n.*59_*61dup
ENST00000504098.1:c.*59_*61dup	ENSP00000425708.1:n.*59_*61dup
ENST00000509432.1:c.*59_*61dup	ENSP00000426604.1:n.*59_*61dup
ENST00000513706.2:n.2916_2918dup
ENST00000513807.5:c.*59_*61dup	ENSP00000421134.1:n.*59_*61dup
NM_001303249.1:c.*59_*61dup	NP_001290178.1:n.*59_*61dup
NM_001303250.1:c.*59_*61dup	NP_001290179.1:n.*59_*61dup
NM_138773.2:c.*59_*61dup	NP_620128.1:n.*59_*61dup
NM_001303249.2:c.*59_*61dup	NP_001290178.1:n.*59_*61dup
NM_001303250.2:c.*59_*61dup	NP_001290179.1:n.*59_*61dup
NM_138773.3:c.*59_*61dup	NP_620128.1:n.*59_*61dup
NR_138151.1:n.1590_1592dup
NM_138773.4:c.*59_*61dup MANE Select	NP_620128.1:n.*59_*61dup
NM_001303249.3:c.*59_*61dup	NP_001290178.1:n.*59_*61dup
NM_001303250.3:c.*59_*61dup	NP_001290179.1:n.*59_*61dup
NR_138151.2:n.1555_1557dup