Canonical Allele Identifier: CA2684466372
Gene: SLC26A4 HGNC NCBI

Linked Data

gnomAD v4: 7-107689130-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689132del , CM000669.2:g.107689132del GRCh38
NC_000007.13:g.107329577del , CM000669.1:g.107329577del GRCh37
NC_000007.12:g.107116813del NCBI36
NG_008489.1:g.33498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1081del MANE Select ENSP00000494017.1:p.Tyr361MetfsTer7
ENST00000265715.7:c.1081del ENSP00000265715.3:p.Tyr361MetfsTer7
NM_000441.1:c.1081del NP_000432.1:p.Tyr361MetfsTer7
XM_005250425.1:c.1081del XP_005250482.1:p.Tyr361MetfsTer7
XM_006716025.2:c.1081del XP_006716088.1:p.Tyr361MetfsTer7
XM_005250425.2:c.1081del XP_005250482.1:p.Tyr361MetfsTer7
XM_006716025.3:c.1081del XP_006716088.1:p.Tyr361MetfsTer7
XM_017012318.1:c.1081del XP_016867807.1:p.Tyr361MetfsTer7
NM_000441.2:c.1081del MANE Select NP_000432.1:p.Tyr361MetfsTer7
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