Canonical Allele Identifier: CA1572440026
Gene: SLC25A46 HGNC NCBI

Linked Data

dbSNP Id: rs1799815984
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746276_110746283del , CM000667.2:g.110746276_110746283del GRCh38
NC_000005.9:g.110081977_110081984del , CM000667.1:g.110081977_110081984del GRCh37
NC_000005.8:g.110109876_110109883del NCBI36
NG_051334.1:g.13141_13148del

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.392_399del MANE Select ENSP00000348211.3:p.Tyr131SerfsTer24
ENST00000355943.7:c.392_399del ENSP00000348211.3:p.Tyr131SerfsTer24
ENST00000447245.6:c.392_399del ENSP00000399717.2:p.Tyr131SerfsTer24
ENST00000502462.6:n.708_715del
ENST00000504098.1:c.-47_-40del ENSP00000425708.1:n.-47_-40del
ENST00000508781.5:n.221_228del
ENST00000513807.5:c.-95_-88del ENSP00000421134.1:n.-95_-88del
NM_001303249.1:c.392_399del NP_001290178.1:p.Tyr131SerfsTer24
NM_001303250.1:c.119_126del NP_001290179.1:p.Tyr40SerfsTer24
NM_138773.2:c.392_399del NP_620128.1:p.Tyr131SerfsTer24
XM_011543708.1:c.392_399del XP_011542010.1:p.Tyr131SerfsTer24
NM_001303249.2:c.392_399del NP_001290178.1:p.Tyr131SerfsTer24
NM_001303250.2:c.119_126del NP_001290179.1:p.Tyr40SerfsTer24
NM_138773.3:c.392_399del NP_620128.1:p.Tyr131SerfsTer24
NR_138151.1:n.540_547del
NM_138773.4:c.392_399del MANE Select NP_620128.1:p.Tyr131SerfsTer24
NM_001303249.3:c.392_399del NP_001290178.1:p.Tyr131SerfsTer24
NM_001303250.3:c.119_126del NP_001290179.1:p.Tyr40SerfsTer24
NR_138151.2:n.505_512del
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