Canonical Allele Identifier: CA2578988667
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1725558
ClinVar RCV Id: RCV002309242 RCV003099154
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683351del , CM000669.2:g.107683351del GRCh38
NC_000007.13:g.107323796del , CM000669.1:g.107323796del GRCh37
NC_000007.12:g.107111032del NCBI36
NG_008489.1:g.27717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.915del MANE Select ENSP00000494017.1:p.Ile305MetfsTer2
ENST00000265715.7:c.915del ENSP00000265715.3:p.Ile305MetfsTer2
NM_000441.1:c.915del NP_000432.1:p.Ile305MetfsTer2
XM_005250425.1:c.915del XP_005250482.1:p.Ile305MetfsTer2
XM_006716025.2:c.915del XP_006716088.1:p.Ile305MetfsTer2
XM_005250425.2:c.915del XP_005250482.1:p.Ile305MetfsTer2
XM_006716025.3:c.915del XP_006716088.1:p.Ile305MetfsTer2
XM_017012318.1:c.915del XP_016867807.1:p.Ile305MetfsTer2
NM_000441.2:c.915del MANE Select NP_000432.1:p.Ile305MetfsTer2
Search 100 bp 5'
Search 100 bp 3'