Canonical Allele Identifier: CA125344899

Gene: SLC25A46

Linked Data

• dbSNP Id: rs748790829
• gnomAD v2: 5-110096612-G-GTTAT
• gnomAD v3: 5-110760912-G-GTTAT
• gnomAD v4: 5-110760912-G-GTTAT
• MyVariant Identifiers: chr5:g.110096612_110096613insTTAT (hg19) ; chr5:g.110760912_110760913insTTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110760914_110760917dup , CM000667.2:g.110760914_110760917dup	GRCh38
NC_000005.9:g.110096614_110096617dup , CM000667.1:g.110096614_110096617dup	GRCh37
NC_000005.8:g.110124513_110124516dup	NCBI36
NG_051334.1:g.27779_27782dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.679-290_679-287dup MANE Select	ENSP00000348211.3:n.679-290_679-287dup
ENST00000355943.7:c.679-290_679-287dup	ENSP00000348211.3:n.679-290_679-287dup
ENST00000447245.6:c.679-533_679-530dup	ENSP00000399717.2:n.679-533_679-530dup
ENST00000502462.6:n.995-290_995-287dup
ENST00000504098.1:c.241-290_241-287dup	ENSP00000425708.1:n.241-290_241-287dup
ENST00000509432.1:c.40-290_40-287dup	ENSP00000426604.1:n.40-290_40-287dup
ENST00000513706.2:n.2279-290_2279-287dup
ENST00000513807.5:c.193-290_193-287dup	ENSP00000421134.1:n.193-290_193-287dup
NM_001303249.1:c.679-533_679-530dup	NP_001290178.1:n.679-533_679-530dup
NM_001303250.1:c.406-290_406-287dup	NP_001290179.1:n.406-290_406-287dup
NM_138773.2:c.679-290_679-287dup	NP_620128.1:n.679-290_679-287dup
NM_001303249.2:c.679-533_679-530dup	NP_001290178.1:n.679-533_679-530dup
NM_001303250.2:c.406-290_406-287dup	NP_001290179.1:n.406-290_406-287dup
NM_138773.3:c.679-290_679-287dup	NP_620128.1:n.679-290_679-287dup
NR_138151.1:n.953-290_953-287dup
NM_138773.4:c.679-290_679-287dup MANE Select	NP_620128.1:n.679-290_679-287dup
NM_001303249.3:c.679-533_679-530dup	NP_001290178.1:n.679-533_679-530dup
NM_001303250.3:c.406-290_406-287dup	NP_001290179.1:n.406-290_406-287dup
NR_138151.2:n.918-290_918-287dup