Canonical Allele Identifier: CA2684465739
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Linked Data

gnomAD v4: 7-107661784-A-AC
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661784_107661785insC , CM000669.2:g.107661784_107661785insC GRCh38
NC_000007.13:g.107302229_107302230insC , CM000669.1:g.107302229_107302230insC GRCh37
NC_000007.12:g.107089465_107089466insC NCBI36
NG_008489.1:g.6150_6151insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.143_144insC (SLC26A4) MANE Select ENSP00000494017.1:p.Glu48AspfsTer?
ENST00000265715.7:c.143_144insC (SLC26A4) ENSP00000265715.3:p.Glu48AspfsTer?
ENST00000440056.1:c.143_144insC (SLC26A4) ENSP00000394760.1:p.Glu48AspfsTer?
NM_000441.1:c.143_144insC (SLC26A4) NP_000432.1:p.Glu48AspfsTer?
NR_028137.1:n.14_15insG (SLC26A4-AS1)
XM_005250425.1:c.143_144insC (SLC26A4) XP_005250482.1:p.Glu48AspfsTer?
XM_006716025.2:c.143_144insC (SLC26A4) XP_006716088.1:p.Glu48AspfsTer?
XM_005250425.2:c.143_144insC (SLC26A4) XP_005250482.1:p.Glu48AspfsTer?
XM_006716025.3:c.143_144insC (SLC26A4) XP_006716088.1:p.Glu48AspfsTer?
XM_017012318.1:c.143_144insC (SLC26A4) XP_016867807.1:p.Glu48AspfsTer?
NM_000441.2:c.143_144insC (SLC26A4) MANE Select NP_000432.1:p.Glu48AspfsTer?
Search 100 bp 5'
Search 100 bp 3'