Canonical Allele Identifier: CA2695198373
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678930
ClinVar RCV Id: RCV003472906
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690190_107690192delinsC , CM000669.2:g.107690190_107690192delinsC GRCh38
NC_000007.13:g.107330635_107330637delinsC , CM000669.1:g.107330635_107330637delinsC GRCh37
NC_000007.12:g.107117871_107117873delinsC NCBI36
NG_008489.1:g.34556_34558delinsC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1216_1218delinsC MANE Select ENSP00000494017.1:p.Ala406ProfsTer?
ENST00000265715.7:c.1216_1218delinsC ENSP00000265715.3:p.Ala406ProfsTer?
NM_000441.1:c.1216_1218delinsC NP_000432.1:p.Ala406ProfsTer?
XM_005250425.1:c.1216_1218delinsC XP_005250482.1:p.Ala406ProfsTer?
XM_006716025.2:c.1216_1218delinsC XP_006716088.1:p.Ala406ProfsTer?
XM_005250425.2:c.1216_1218delinsC XP_005250482.1:p.Ala406ProfsTer?
XM_006716025.3:c.1216_1218delinsC XP_006716088.1:p.Ala406ProfsTer?
XM_017012318.1:c.1216_1218delinsC XP_016867807.1:p.Ala406ProfsTer?
NM_000441.2:c.1216_1218delinsC MANE Select NP_000432.1:p.Ala406ProfsTer?
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