Canonical Allele Identifier: CA2695203107
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689137dup , CM000669.2:g.107689137dup GRCh38
NC_000007.13:g.107329582dup , CM000669.1:g.107329582dup GRCh37
NC_000007.12:g.107116818dup NCBI36
NG_008489.1:g.33503dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1086dup MANE Select ENSP00000494017.1:p.Ile363TyrfsTer14
ENST00000265715.7:c.1086dup ENSP00000265715.3:p.Ile363TyrfsTer14
NM_000441.1:c.1086dup NP_000432.1:p.Ile363TyrfsTer14
XM_005250425.1:c.1086dup XP_005250482.1:p.Ile363TyrfsTer14
XM_006716025.2:c.1086dup XP_006716088.1:p.Ile363TyrfsTer14
XM_005250425.2:c.1086dup XP_005250482.1:p.Ile363TyrfsTer14
XM_006716025.3:c.1086dup XP_006716088.1:p.Ile363TyrfsTer14
XM_017012318.1:c.1086dup XP_016867807.1:p.Ile363TyrfsTer14
NM_000441.2:c.1086dup MANE Select NP_000432.1:p.Ile363TyrfsTer14