Canonical Allele Identifier: CA4432978
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678899
ClinVar RCV Id: RCV003472875
dbSNP Id: rs763203596
ExAC: 7:107342369 TAG / T
gnomAD v2: 7-107342369-TAG-T
gnomAD v3: 7-107701924-TAG-T
gnomAD v4: 7-107701924-TAG-T
MyVariant Identifiers: chr7:g.107342370_107342371del (hg19) chr7:g.107701925_107701926del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701928_107701929del , CM000669.2:g.107701928_107701929del GRCh38
NC_000007.13:g.107342373_107342374del , CM000669.1:g.107342373_107342374del GRCh37
NC_000007.12:g.107129609_107129610del NCBI36
NG_008489.1:g.46294_46295del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1905_1906del MANE Select ENSP00000494017.1:p.Glu635AspfsTer8
ENST00000644846.1:c.616_617del
ENST00000265715.7:c.1905_1906del ENSP00000265715.3:p.Glu635AspfsTer8
ENST00000492030.2:n.192_193del
NM_000441.1:c.1905_1906del NP_000432.1:p.Glu635AspfsTer8
XM_005250425.1:c.1905_1906del XP_005250482.1:p.Glu635AspfsTer8
XM_005250425.2:c.1905_1906del XP_005250482.1:p.Glu635AspfsTer8
XM_017012318.1:c.1827_1828del XP_016867807.1:p.Glu609AspfsTer8
NM_000441.2:c.1905_1906del MANE Select NP_000432.1:p.Glu635AspfsTer8
Search 100 bp 5'
Search 100 bp 3'