Canonical Allele Identifier: CA2580076139
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1725133
ClinVar RCV Id: RCV002308192
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689066del , CM000669.2:g.107689066del GRCh38
NC_000007.13:g.107329511del , CM000669.1:g.107329511del GRCh37
NC_000007.12:g.107116747del NCBI36
NG_008489.1:g.33432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1015del MANE Select ENSP00000494017.1:p.Glu339AsnfsTer5
ENST00000265715.7:c.1015del ENSP00000265715.3:p.Glu339AsnfsTer5
NM_000441.1:c.1015del NP_000432.1:p.Glu339AsnfsTer5
XM_005250425.1:c.1015del XP_005250482.1:p.Glu339AsnfsTer5
XM_006716025.2:c.1015del XP_006716088.1:p.Glu339AsnfsTer5
XM_005250425.2:c.1015del XP_005250482.1:p.Glu339AsnfsTer5
XM_006716025.3:c.1015del XP_006716088.1:p.Glu339AsnfsTer5
XM_017012318.1:c.1015del XP_016867807.1:p.Glu339AsnfsTer5
NM_000441.2:c.1015del MANE Select NP_000432.1:p.Glu339AsnfsTer5
Search 100 bp 5'
Search 100 bp 3'