Canonical Allele Identifier: CA2674823625
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761774_110761777dup , CM000667.2:g.110761774_110761777dup GRCh38
NC_000005.9:g.110097474_110097477dup , CM000667.1:g.110097474_110097477dup GRCh37
NC_000005.8:g.110125373_110125376dup NCBI36
NG_051334.1:g.28639_28642dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1249_1252dup MANE Select ENSP00000348211.3:p.Ile418LysfsTer10
ENST00000355943.7:c.1249_1252dup ENSP00000348211.3:p.Ile418LysfsTer10
ENST00000447245.6:c.1006_1009dup ENSP00000399717.2:p.Ile337LysfsTer10
ENST00000504098.1:c.811_814dup ENSP00000425708.1:p.Ile272LysfsTer10
ENST00000509432.1:c.610_613dup ENSP00000426604.1:p.Ile205LysfsTer10
ENST00000513706.2:n.2849_2852dup
ENST00000513807.5:c.763_766dup ENSP00000421134.1:p.Ile256LysfsTer10
NM_001303249.1:c.1006_1009dup NP_001290178.1:p.Ile337LysfsTer10
NM_001303250.1:c.976_979dup NP_001290179.1:p.Ile327LysfsTer10
NM_138773.2:c.1249_1252dup NP_620128.1:p.Ile418LysfsTer10
NM_001303249.2:c.1006_1009dup NP_001290178.1:p.Ile337LysfsTer10
NM_001303250.2:c.976_979dup NP_001290179.1:p.Ile327LysfsTer10
NM_138773.3:c.1249_1252dup NP_620128.1:p.Ile418LysfsTer10
NR_138151.1:n.1523_1526dup
NM_138773.4:c.1249_1252dup MANE Select NP_620128.1:p.Ile418LysfsTer10
NM_001303249.3:c.1006_1009dup NP_001290178.1:p.Ile337LysfsTer10
NM_001303250.3:c.976_979dup NP_001290179.1:p.Ile327LysfsTer10
NR_138151.2:n.1488_1491dup