Canonical Allele Identifier: CA2767901024

Gene: SLC25A46

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761746_110761747insCACACCCAACAC , CM000667.2:g.110761746_110761747insCACACCCAACAC	GRCh38
NC_000005.9:g.110097446_110097447insCACACCCAACAC , CM000667.1:g.110097446_110097447insCACACCCAACAC	GRCh37
NC_000005.8:g.110125345_110125346insCACACCCAACAC	NCBI36
NG_051334.1:g.28611_28612insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1221_1222insCACACCCAACAC MANE Select	ENSP00000348211.3:p.Lys407_Ile408insHisThrGlnHis
ENST00000355943.7:c.1221_1222insCACACCCAACAC	ENSP00000348211.3:p.Lys407_Ile408insHisThrGlnHis
ENST00000447245.6:c.978_979insCACACCCAACAC	ENSP00000399717.2:p.Lys326_Ile327insHisThrGlnHis
ENST00000504098.1:c.783_784insCACACCCAACAC	ENSP00000425708.1:p.Lys261_Ile262insHisThrGlnHis
ENST00000509432.1:c.582_583insCACACCCAACAC	ENSP00000426604.1:p.Lys194_Ile195insHisThrGlnHis
ENST00000513706.2:n.2821_2822insCACACCCAACAC
ENST00000513807.5:c.735_736insCACACCCAACAC	ENSP00000421134.1:p.Lys245_Ile246insHisThrGlnHis
NM_001303249.1:c.978_979insCACACCCAACAC	NP_001290178.1:p.Lys326_Ile327insHisThrGlnHis
NM_001303250.1:c.948_949insCACACCCAACAC	NP_001290179.1:p.Lys316_Ile317insHisThrGlnHis
NM_138773.2:c.1221_1222insCACACCCAACAC	NP_620128.1:p.Lys407_Ile408insHisThrGlnHis
NM_001303249.2:c.978_979insCACACCCAACAC	NP_001290178.1:p.Lys326_Ile327insHisThrGlnHis
NM_001303250.2:c.948_949insCACACCCAACAC	NP_001290179.1:p.Lys316_Ile317insHisThrGlnHis
NM_138773.3:c.1221_1222insCACACCCAACAC	NP_620128.1:p.Lys407_Ile408insHisThrGlnHis
NR_138151.1:n.1495_1496insCACACCCAACAC
NM_138773.4:c.1221_1222insCACACCCAACAC MANE Select	NP_620128.1:p.Lys407_Ile408insHisThrGlnHis
NM_001303249.3:c.978_979insCACACCCAACAC	NP_001290178.1:p.Lys326_Ile327insHisThrGlnHis
NM_001303250.3:c.948_949insCACACCCAACAC	NP_001290179.1:p.Lys316_Ile317insHisThrGlnHis
NR_138151.2:n.1460_1461insCACACCCAACAC