Canonical Allele Identifier: CA4432821
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 555750
ClinVar RCV Id: RCV002225713
dbSNP Id: rs753586849
ExAC: 7:107336364 A / AT
gnomAD v2: 7-107336364-A-AT
gnomAD v4: 7-107695919-A-AT
MyVariant Identifiers: chr7:g.107336365_107336366insT (hg19) chr7:g.107336364_107336365insT (hg19) chr7:g.107695926dup (hg38) chr7:g.107695920_107695921insT (hg38) chr7:g.107695919_107695920insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695926dup , CM000669.2:g.107695926dup GRCh38
NC_000007.13:g.107336371dup , CM000669.1:g.107336371dup GRCh37
NC_000007.12:g.107123607dup NCBI36
NG_008489.1:g.40292dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1438-7dup MANE Select ENSP00000494017.1:n.1438-7dup
ENST00000644846.1:c.149-7dup
ENST00000265715.7:c.1438-7dup ENSP00000265715.3:n.1438-7dup
ENST00000460748.1:n.541-7dup
ENST00000477350.5:n.285-7dup
ENST00000480841.5:n.287-7dup
ENST00000497446.5:n.453-7dup
NM_000441.1:c.1438-7dup NP_000432.1:n.1438-7dup
XM_005250425.1:c.1438-7dup XP_005250482.1:n.1438-7dup
XM_005250425.2:c.1438-7dup XP_005250482.1:n.1438-7dup
XM_017012318.1:c.1360-7dup XP_016867807.1:n.1360-7dup
NM_000441.2:c.1438-7dup MANE Select NP_000432.1:n.1438-7dup
Search 100 bp 5'
Search 100 bp 3'