Canonical Allele Identifier: CA2695199617
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678917
ClinVar RCV Id: RCV003472893
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710179dup , CM000669.2:g.107710179dup GRCh38
NC_000007.13:g.107350624dup , CM000669.1:g.107350624dup GRCh37
NC_000007.12:g.107137860dup NCBI36
NG_008489.1:g.54545dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2215dup MANE Select ENSP00000494017.1:p.Gln739ProfsTer15
ENST00000644846.1:c.871dup
ENST00000265715.7:c.2215dup ENSP00000265715.3:p.Gln739ProfsTer15
ENST00000492030.2:n.401dup
NM_000441.1:c.2215dup NP_000432.1:p.Gln739ProfsTer15
XM_005250425.1:c.2215dup XP_005250482.1:p.Gln739ProfsTer15
XM_005250425.2:c.2215dup XP_005250482.1:p.Gln739ProfsTer15
XM_017012318.1:c.2137dup XP_016867807.1:p.Gln713ProfsTer15
NM_000441.2:c.2215dup MANE Select NP_000432.1:p.Gln739ProfsTer15
Search 100 bp 5'
Search 100 bp 3'