Canonical Allele Identifier: CA457103251
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701925dup , CM000669.2:g.107701925dup GRCh38
NC_000007.13:g.107342370dup , CM000669.1:g.107342370dup GRCh37
NC_000007.12:g.107129606dup NCBI36
NG_008489.1:g.46291dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1902dup MANE Select ENSP00000494017.1:p.Glu635ArgfsTer9
ENST00000644846.1:c.613dup
ENST00000265715.7:c.1902dup ENSP00000265715.3:p.Glu635ArgfsTer9
ENST00000492030.2:n.189dup
NM_000441.1:c.1902dup NP_000432.1:p.Glu635ArgfsTer9
XM_005250425.1:c.1902dup XP_005250482.1:p.Glu635ArgfsTer9
XM_005250425.2:c.1902dup XP_005250482.1:p.Glu635ArgfsTer9
XM_017012318.1:c.1824dup XP_016867807.1:p.Glu609ArgfsTer9
NM_000441.2:c.1902dup MANE Select NP_000432.1:p.Glu635ArgfsTer9