Canonical Allele Identifier: CA2764845695
Gene: SLC25A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143487_185143488insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT , CM000666.2:g.185143487_185143488insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT GRCh38
NC_000004.11:g.186064641_186064642insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT , CM000666.1:g.186064641_186064642insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT GRCh37
NC_000004.10:g.186301635_186301636insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT NCBI36
NG_013001.1:g.5225_5226insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT MANE Select ENSP00000281456.5:n.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGA...
ENST00000281456.10:c.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT ENSP00000281456.5:n.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGA...
ENST00000491736.1:c.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT ENSP00000476711.1:n.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGA...
NM_001151.3:c.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT NP_001142.2:n.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTG...
NM_001151.4:c.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGT MANE Select NP_001142.2:n.111+4_111+5insTCAGTGCTGAGAAGCAGTACAAAGGGATCATTG...