Canonical Allele Identifier: CA2831039219
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683463dup , CM000669.2:g.107683463dup GRCh38
NC_000007.13:g.107323908dup , CM000669.1:g.107323908dup GRCh37
NC_000007.12:g.107111144dup NCBI36
NG_008489.1:g.27829dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.927dup MANE Select ENSP00000494017.1:p.Ala310CysfsTer20
ENST00000265715.7:c.927dup ENSP00000265715.3:p.Ala310CysfsTer20
NM_000441.1:c.927dup NP_000432.1:p.Ala310CysfsTer20
XM_005250425.1:c.927dup XP_005250482.1:p.Ala310CysfsTer20
XM_006716025.2:c.927dup XP_006716088.1:p.Ala310CysfsTer20
XM_005250425.2:c.927dup XP_005250482.1:p.Ala310CysfsTer20
XM_006716025.3:c.927dup XP_006716088.1:p.Ala310CysfsTer20
XM_017012318.1:c.927dup XP_016867807.1:p.Ala310CysfsTer20
NM_000441.2:c.927dup MANE Select NP_000432.1:p.Ala310CysfsTer20