Canonical Allele Identifier: CA261406
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43501
ClinVar RCV Id: RCV002470729 RCV002482977
dbSNP Id: rs111033306
ExAC: 7:107334863 TCTG / T
gnomAD v2: 7-107334863-TCTG-T
gnomAD v3: 7-107694418-TCTG-T
gnomAD v4: 7-107694418-TCTG-T
MyVariant Identifiers: chr7:g.107334868_107334870del (hg19) chr7:g.107334864_107334866del (hg19) chr7:g.107694423_107694425del (hg38) chr7:g.107694420_107694422del (hg38) chr7:g.107694419_107694421del (hg38)
PubMed: PMID:9618167 PMID:14679580 PMID:20668687 PMID:21704276 PMID:23336812 PMID:23555729
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694423_107694425del , CM000669.2:g.107694423_107694425del GRCh38
NC_000007.13:g.107334868_107334870del , CM000669.1:g.107334868_107334870del GRCh37
NC_000007.12:g.107122104_107122106del NCBI36
NG_008489.1:g.38789_38791del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1284_1286del MANE Select ENSP00000494017.1:p.Ala429del
ENST00000265715.7:c.1284_1286del ENSP00000265715.3:p.Ala429del
ENST00000460748.1:n.387_389del
ENST00000477350.5:n.189-198_189-196del
ENST00000480841.5:n.133_135del
ENST00000497446.5:n.299_301del
NM_000441.1:c.1284_1286del NP_000432.1:p.Ala429del
XM_005250425.1:c.1284_1286del XP_005250482.1:p.Ala429del
XM_005250425.2:c.1284_1286del XP_005250482.1:p.Ala429del
XM_017012318.1:c.1264-198_1264-196del XP_016867807.1:n.1264-198_1264-196del
NM_000441.2:c.1284_1286del MANE Select NP_000432.1:p.Ala429del
Search 100 bp 5'
Search 100 bp 3'