Canonical Allele Identifier: CA2541942856
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107716008_107716010del , CM000669.2:g.107716008_107716010del GRCh38
NC_000007.13:g.107356453_107356455del , CM000669.1:g.107356453_107356455del GRCh37
NC_000007.12:g.107143689_107143691del NCBI36
NG_008489.1:g.60374_60376del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.*562_*564del MANE Select ENSP00000494017.1:n.*562_*564del
ENST00000644846.1:c.1561_1563del
ENST00000265715.7:c.*562_*564del ENSP00000265715.3:n.*562_*564del
NM_000441.1:c.*562_*564del NP_000432.1:n.*562_*564del
XM_005250425.2:c.*562_*564del XP_005250482.1:n.*562_*564del
XM_017012318.1:c.*562_*564del XP_016867807.1:n.*562_*564del
NM_000441.2:c.*562_*564del MANE Select NP_000432.1:n.*562_*564del