Canonical Allele Identifier: CA1572424016

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1800255916

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761699_110761701dup , CM000667.2:g.110761699_110761701dup	GRCh38
NC_000005.9:g.110097399_110097401dup , CM000667.1:g.110097399_110097401dup	GRCh37
NC_000005.8:g.110125298_110125300dup	NCBI36
NG_051334.1:g.28564_28566dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1174_1176dup MANE Select	ENSP00000348211.3:p.Val392_Ile393insVal
ENST00000355943.7:c.1174_1176dup	ENSP00000348211.3:p.Val392_Ile393insVal
ENST00000447245.6:c.931_933dup	ENSP00000399717.2:p.Val311_Ile312insVal
ENST00000504098.1:c.736_738dup	ENSP00000425708.1:p.Val246_Ile247insVal
ENST00000509432.1:c.535_537dup	ENSP00000426604.1:p.Val179_Ile180insVal
ENST00000513706.2:n.2774_2776dup
ENST00000513807.5:c.688_690dup	ENSP00000421134.1:p.Val230_Ile231insVal
NM_001303249.1:c.931_933dup	NP_001290178.1:p.Val311_Ile312insVal
NM_001303250.1:c.901_903dup	NP_001290179.1:p.Val301_Ile302insVal
NM_138773.2:c.1174_1176dup	NP_620128.1:p.Val392_Ile393insVal
NM_001303249.2:c.931_933dup	NP_001290178.1:p.Val311_Ile312insVal
NM_001303250.2:c.901_903dup	NP_001290179.1:p.Val301_Ile302insVal
NM_138773.3:c.1174_1176dup	NP_620128.1:p.Val392_Ile393insVal
NR_138151.1:n.1448_1450dup
NM_138773.4:c.1174_1176dup MANE Select	NP_620128.1:p.Val392_Ile393insVal
NM_001303249.3:c.931_933dup	NP_001290178.1:p.Val311_Ile312insVal
NM_001303250.3:c.901_903dup	NP_001290179.1:p.Val301_Ile302insVal
NR_138151.2:n.1413_1415dup