Canonical Allele Identifier: CA2674821626
Gene: SLC25A46 HGNC NCBI

Linked Data

gnomAD v4: 5-110746274-TTACCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746276_110746280del , CM000667.2:g.110746276_110746280del GRCh38
NC_000005.9:g.110081977_110081981del , CM000667.1:g.110081977_110081981del GRCh37
NC_000005.8:g.110109876_110109880del NCBI36
NG_051334.1:g.13141_13145del

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.392_396del MANE Select ENSP00000348211.3:p.Tyr131CysfsTer25
ENST00000355943.7:c.392_396del ENSP00000348211.3:p.Tyr131CysfsTer25
ENST00000447245.6:c.392_396del ENSP00000399717.2:p.Tyr131CysfsTer25
ENST00000502462.6:n.708_712del
ENST00000504098.1:c.-47_-43del ENSP00000425708.1:n.-47_-43del
ENST00000508781.5:n.221_225del
ENST00000513807.5:c.-95_-91del ENSP00000421134.1:n.-95_-91del
NM_001303249.1:c.392_396del NP_001290178.1:p.Tyr131CysfsTer25
NM_001303250.1:c.119_123del NP_001290179.1:p.Tyr40CysfsTer25
NM_138773.2:c.392_396del NP_620128.1:p.Tyr131CysfsTer25
XM_011543708.1:c.392_396del XP_011542010.1:p.Tyr131CysfsTer25
NM_001303249.2:c.392_396del NP_001290178.1:p.Tyr131CysfsTer25
NM_001303250.2:c.119_123del NP_001290179.1:p.Tyr40CysfsTer25
NM_138773.3:c.392_396del NP_620128.1:p.Tyr131CysfsTer25
NR_138151.1:n.540_544del
NM_138773.4:c.392_396del MANE Select NP_620128.1:p.Tyr131CysfsTer25
NM_001303249.3:c.392_396del NP_001290178.1:p.Tyr131CysfsTer25
NM_001303250.3:c.119_123del NP_001290179.1:p.Tyr40CysfsTer25
NR_138151.2:n.505_509del
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