Canonical Allele Identifier: CA1080055913
Gene: SLC25A46 HGNC NCBI

Linked Data

dbSNP Id: rs1799814381
gnomAD v3: 5-110746212-CTG-C
gnomAD v4: 5-110746212-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746214_110746215del , CM000667.2:g.110746214_110746215del GRCh38
NC_000005.9:g.110081915_110081916del , CM000667.1:g.110081915_110081916del GRCh37
NC_000005.8:g.110109814_110109815del NCBI36
NG_051334.1:g.13079_13080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.385-55_385-54del MANE Select ENSP00000348211.3:n.385-55_385-54del
ENST00000355943.7:c.385-55_385-54del ENSP00000348211.3:n.385-55_385-54del
ENST00000447245.6:c.385-55_385-54del ENSP00000399717.2:n.385-55_385-54del
ENST00000502462.6:n.646_647del
ENST00000504098.1:c.-54-55_-54-54del ENSP00000425708.1:n.-54-55_-54-54del
ENST00000508781.5:n.214-55_214-54del
ENST00000513807.5:c.-102-55_-102-54del ENSP00000421134.1:n.-102-55_-102-54del
NM_001303249.1:c.385-55_385-54del NP_001290178.1:n.385-55_385-54del
NM_001303250.1:c.112-55_112-54del NP_001290179.1:n.112-55_112-54del
NM_138773.2:c.385-55_385-54del NP_620128.1:n.385-55_385-54del
XM_011543708.1:c.385-55_385-54del XP_011542010.1:n.385-55_385-54del
NM_001303249.2:c.385-55_385-54del NP_001290178.1:n.385-55_385-54del
NM_001303250.2:c.112-55_112-54del NP_001290179.1:n.112-55_112-54del
NM_138773.3:c.385-55_385-54del NP_620128.1:n.385-55_385-54del
NR_138151.1:n.533-55_533-54del
NM_138773.4:c.385-55_385-54del MANE Select NP_620128.1:n.385-55_385-54del
NM_001303249.3:c.385-55_385-54del NP_001290178.1:n.385-55_385-54del
NM_001303250.3:c.112-55_112-54del NP_001290179.1:n.112-55_112-54del
NR_138151.2:n.498-55_498-54del
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