Canonical Allele Identifier: CA4432822
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1589764
ClinVar RCV Id: RCV002101191
dbSNP Id: rs778728299
ExAC: 7:107336371 T / TC
gnomAD v2: 7-107336371-T-TC
gnomAD v4: 7-107695926-T-TC
MyVariant Identifiers: chr7:g.107336371_107336372insC (hg19) chr7:g.107695926_107695927insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695929dup , CM000669.2:g.107695929dup GRCh38
NC_000007.13:g.107336374dup , CM000669.1:g.107336374dup GRCh37
NC_000007.12:g.107123610dup NCBI36
NG_008489.1:g.40295dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1438-4dup MANE Select ENSP00000494017.1:n.1438-4dup
ENST00000644846.1:c.149-4dup
ENST00000265715.7:c.1438-4dup ENSP00000265715.3:n.1438-4dup
ENST00000460748.1:n.541-4dup
ENST00000477350.5:n.285-4dup
ENST00000480841.5:n.287-4dup
ENST00000497446.5:n.453-4dup
NM_000441.1:c.1438-4dup NP_000432.1:n.1438-4dup
XM_005250425.1:c.1438-4dup XP_005250482.1:n.1438-4dup
XM_005250425.2:c.1438-4dup XP_005250482.1:n.1438-4dup
XM_017012318.1:c.1360-4dup XP_016867807.1:n.1360-4dup
NM_000441.2:c.1438-4dup MANE Select NP_000432.1:n.1438-4dup
Search 100 bp 5'
Search 100 bp 3'