Canonical Allele Identifier: CA2695198369
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678911
ClinVar RCV Id: RCV003472887
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689073dup , CM000669.2:g.107689073dup GRCh38
NC_000007.13:g.107329518dup , CM000669.1:g.107329518dup GRCh37
NC_000007.12:g.107116754dup NCBI36
NG_008489.1:g.33439dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1022dup MANE Select ENSP00000494017.1:p.Pro342ThrfsTer?
ENST00000265715.7:c.1022dup ENSP00000265715.3:p.Pro342ThrfsTer?
NM_000441.1:c.1022dup NP_000432.1:p.Pro342ThrfsTer?
XM_005250425.1:c.1022dup XP_005250482.1:p.Pro342ThrfsTer?
XM_006716025.2:c.1022dup XP_006716088.1:p.Pro342ThrfsTer?
XM_005250425.2:c.1022dup XP_005250482.1:p.Pro342ThrfsTer?
XM_006716025.3:c.1022dup XP_006716088.1:p.Pro342ThrfsTer?
XM_017012318.1:c.1022dup XP_016867807.1:p.Pro342ThrfsTer?
NM_000441.2:c.1022dup MANE Select NP_000432.1:p.Pro342ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'