Canonical Allele Identifier: CA2499218644
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069794
ClinVar RCV Id: RCV001381759
dbSNP Id: rs2129319916
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710103del , CM000669.2:g.107710103del GRCh38
NC_000007.13:g.107350548del , CM000669.1:g.107350548del GRCh37
NC_000007.12:g.107137784del NCBI36
NG_008489.1:g.54469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2139del MANE Select ENSP00000494017.1:p.Arg714GlufsTer7
ENST00000644846.1:c.795del
ENST00000265715.7:c.2139del ENSP00000265715.3:p.Arg714GlufsTer7
ENST00000492030.2:n.377-52del
NM_000441.1:c.2139del NP_000432.1:p.Arg714GlufsTer7
XM_005250425.1:c.2139del XP_005250482.1:p.Arg714GlufsTer7
XM_005250425.2:c.2139del XP_005250482.1:p.Arg714GlufsTer7
XM_017012318.1:c.2061del XP_016867807.1:p.Arg688GlufsTer7
NM_000441.2:c.2139del MANE Select NP_000432.1:p.Arg714GlufsTer7
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