Canonical Allele Identifier: CA267506
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 97015
ClinVar RCV Id: RCV000083261
dbSNP Id: rs431905486

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683533dup , CM000669.2:g.107683533dup GRCh38
NC_000007.13:g.107323978dup , CM000669.1:g.107323978dup GRCh37
NC_000007.12:g.107111214dup NCBI36
NG_008489.1:g.27899dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.997dup MANE Select ENSP00000494017.1:p.Arg333LysfsTer7
ENST00000265715.7:c.997dup ENSP00000265715.3:p.Arg333LysfsTer7
NM_000441.1:c.997dup NP_000432.1:p.Arg333LysfsTer7
XM_005250425.1:c.997dup XP_005250482.1:p.Arg333LysfsTer7
XM_006716025.2:c.997dup XP_006716088.1:p.Arg333LysfsTer7
XM_005250425.2:c.997dup XP_005250482.1:p.Arg333LysfsTer7
XM_006716025.3:c.997dup XP_006716088.1:p.Arg333LysfsTer7
XM_017012318.1:c.997dup XP_016867807.1:p.Arg333LysfsTer7
NM_000441.2:c.997dup MANE Select NP_000432.1:p.Arg333LysfsTer7