Canonical Allele Identifier: CA831174516
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2735074
ClinVar RCV Id: RCV003555365
dbSNP Id: rs1554362779
gnomAD v3: 7-107710145-C-CT
gnomAD v4: 7-107710145-C-CT
MyVariant Identifiers: chr7:g.107350590_107350591insT (hg19) chr7:g.107710145_107710146insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710146dup , CM000669.2:g.107710146dup GRCh38
NC_000007.13:g.107350591dup , CM000669.1:g.107350591dup GRCh37
NC_000007.12:g.107137827dup NCBI36
NG_008489.1:g.54512dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2182dup MANE Select ENSP00000494017.1:p.Tyr728LeufsTer26
ENST00000644846.1:c.838dup
ENST00000265715.7:c.2182dup ENSP00000265715.3:p.Tyr728LeufsTer26
ENST00000492030.2:n.377-9dup
NM_000441.1:c.2182dup NP_000432.1:p.Tyr728LeufsTer26
XM_005250425.1:c.2182dup XP_005250482.1:p.Tyr728LeufsTer26
XM_005250425.2:c.2182dup XP_005250482.1:p.Tyr728LeufsTer26
XM_017012318.1:c.2104dup XP_016867807.1:p.Tyr702LeufsTer26
NM_000441.2:c.2182dup MANE Select NP_000432.1:p.Tyr728LeufsTer26
Search 100 bp 5'
Search 100 bp 3'