Canonical Allele Identifier: CA2684466371
Gene: SLC26A4 HGNC NCBI

Linked Data

gnomAD v4: 7-107689064-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689065del , CM000669.2:g.107689065del GRCh38
NC_000007.13:g.107329510del , CM000669.1:g.107329510del GRCh37
NC_000007.12:g.107116746del NCBI36
NG_008489.1:g.33431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1014del MANE Select ENSP00000494017.1:p.Glu339AsnfsTer5
ENST00000265715.7:c.1014del ENSP00000265715.3:p.Glu339AsnfsTer5
NM_000441.1:c.1014del NP_000432.1:p.Glu339AsnfsTer5
XM_005250425.1:c.1014del XP_005250482.1:p.Glu339AsnfsTer5
XM_006716025.2:c.1014del XP_006716088.1:p.Glu339AsnfsTer5
XM_005250425.2:c.1014del XP_005250482.1:p.Glu339AsnfsTer5
XM_006716025.3:c.1014del XP_006716088.1:p.Glu339AsnfsTer5
XM_017012318.1:c.1014del XP_016867807.1:p.Glu339AsnfsTer5
NM_000441.2:c.1014del MANE Select NP_000432.1:p.Glu339AsnfsTer5
Search 100 bp 5'
Search 100 bp 3'