Canonical Allele Identifier: CA16041105
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 371404
ClinVar RCV Id: RCV000411038
dbSNP Id: rs1057517246

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683294_107683301del , CM000669.2:g.107683294_107683301del GRCh38
NC_000007.13:g.107323739_107323746del , CM000669.1:g.107323739_107323746del GRCh37
NC_000007.12:g.107110975_107110982del NCBI36
NG_008489.1:g.27660_27667del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.858_865del MANE Select ENSP00000494017.1:p.Glu287Ter
ENST00000265715.7:c.858_865del ENSP00000265715.3:p.Glu287Ter
NM_000441.1:c.858_865del NP_000432.1:p.Glu287Ter
XM_005250425.1:c.858_865del XP_005250482.1:p.Glu287Ter
XM_006716025.2:c.858_865del XP_006716088.1:p.Glu287Ter
XM_005250425.2:c.858_865del XP_005250482.1:p.Glu287Ter
XM_006716025.3:c.858_865del XP_006716088.1:p.Glu287Ter
XM_017012318.1:c.858_865del XP_016867807.1:p.Glu287Ter
NM_000441.2:c.858_865del MANE Select NP_000432.1:p.Glu287Ter