Canonical Allele Identifier: CA913111811
Gene: SLC26A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107334870dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694425dup , CM000669.2:g.107694425dup GRCh38
NC_000007.13:g.107334870dup , CM000669.1:g.107334870dup GRCh37
NC_000007.12:g.107122106dup NCBI36
NG_008489.1:g.38791dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1286dup MANE Select ENSP00000494017.1:p.Ile430AspfsTer?
ENST00000265715.7:c.1286dup ENSP00000265715.3:p.Ile430AspfsTer?
ENST00000460748.1:n.389dup
ENST00000477350.5:n.189-196dup
ENST00000480841.5:n.135dup
ENST00000497446.5:n.301dup
NM_000441.1:c.1286dup NP_000432.1:p.Ile430AspfsTer?
XM_005250425.1:c.1286dup XP_005250482.1:p.Ile430AspfsTer?
XM_005250425.2:c.1286dup XP_005250482.1:p.Ile430AspfsTer?
XM_017012318.1:c.1264-196dup XP_016867807.1:n.1264-196dup
NM_000441.2:c.1286dup MANE Select NP_000432.1:p.Ile430AspfsTer?