Canonical Allele Identifier: CA2695208263
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701848del , CM000669.2:g.107701848del GRCh38
NC_000007.13:g.107342293del , CM000669.1:g.107342293del GRCh37
NC_000007.12:g.107129529del NCBI36
NG_008489.1:g.46214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1825del MANE Select ENSP00000494017.1:p.Val609PhefsTer26
ENST00000644846.1:c.536del
ENST00000265715.7:c.1825del ENSP00000265715.3:p.Val609PhefsTer26
ENST00000480841.5:n.674del
ENST00000492030.2:n.112del
NM_000441.1:c.1825del NP_000432.1:p.Val609PhefsTer26
XM_005250425.1:c.1825del XP_005250482.1:p.Val609PhefsTer26
XM_005250425.2:c.1825del XP_005250482.1:p.Val609PhefsTer26
XM_017012318.1:c.1747del XP_016867807.1:p.Val583PhefsTer26
NM_000441.2:c.1825del MANE Select NP_000432.1:p.Val609PhefsTer26