Canonical Allele Identifier: CA164227821
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1279383
ClinVar RCV Id: RCV001691104
dbSNP Id: rs200590284
gnomAD v2: 7-107350313-GC-G
gnomAD v3: 7-107709868-GC-G
gnomAD v4: 7-107709868-GC-G
MyVariant Identifiers: chr7:g.107350314del (hg19) chr7:g.107709869del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107709871del , CM000669.2:g.107709871del GRCh38
NC_000007.13:g.107350316del , CM000669.1:g.107350316del GRCh37
NC_000007.12:g.107137552del NCBI36
NG_008489.1:g.54237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2090-183del MANE Select ENSP00000494017.1:n.2090-183del
ENST00000644846.1:c.746-183del
ENST00000265715.7:c.2090-183del ENSP00000265715.3:n.2090-183del
ENST00000492030.2:n.377-284del
NM_000441.1:c.2090-183del NP_000432.1:n.2090-183del
XM_005250425.1:c.2090-183del XP_005250482.1:n.2090-183del
XM_005250425.2:c.2090-183del XP_005250482.1:n.2090-183del
XM_017012318.1:c.2012-183del XP_016867807.1:n.2012-183del
NM_000441.2:c.2090-183del MANE Select NP_000432.1:n.2090-183del
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