Canonical Allele Identifier: CA2767901028
Gene: SLC25A46 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761829_110761831dup , CM000667.2:g.110761829_110761831dup GRCh38
NC_000005.9:g.110097529_110097531dup , CM000667.1:g.110097529_110097531dup GRCh37
NC_000005.8:g.110125428_110125430dup NCBI36
NG_051334.1:g.28694_28696dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.*47_*49dup MANE Select ENSP00000348211.3:n.*47_*49dup
ENST00000355943.7:c.*47_*49dup ENSP00000348211.3:n.*47_*49dup
ENST00000447245.6:c.*47_*49dup ENSP00000399717.2:n.*47_*49dup
ENST00000504098.1:c.*47_*49dup ENSP00000425708.1:n.*47_*49dup
ENST00000509432.1:c.*47_*49dup ENSP00000426604.1:n.*47_*49dup
ENST00000513706.2:n.2904_2906dup
ENST00000513807.5:c.*47_*49dup ENSP00000421134.1:n.*47_*49dup
NM_001303249.1:c.*47_*49dup NP_001290178.1:n.*47_*49dup
NM_001303250.1:c.*47_*49dup NP_001290179.1:n.*47_*49dup
NM_138773.2:c.*47_*49dup NP_620128.1:n.*47_*49dup
NM_001303249.2:c.*47_*49dup NP_001290178.1:n.*47_*49dup
NM_001303250.2:c.*47_*49dup NP_001290179.1:n.*47_*49dup
NM_138773.3:c.*47_*49dup NP_620128.1:n.*47_*49dup
NR_138151.1:n.1578_1580dup
NM_138773.4:c.*47_*49dup MANE Select NP_620128.1:n.*47_*49dup
NM_001303249.3:c.*47_*49dup NP_001290178.1:n.*47_*49dup
NM_001303250.3:c.*47_*49dup NP_001290179.1:n.*47_*49dup
NR_138151.2:n.1543_1545dup