Canonical Allele Identifier: CA2695208266
Gene: SLC26A4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701923del , CM000669.2:g.107701923del GRCh38
NC_000007.13:g.107342368del , CM000669.1:g.107342368del GRCh37
NC_000007.12:g.107129604del NCBI36
NG_008489.1:g.46289del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1900del MANE Select ENSP00000494017.1:p.Ile634Ter
ENST00000644846.1:c.611del
ENST00000265715.7:c.1900del ENSP00000265715.3:p.Ile634Ter
ENST00000492030.2:n.187del
NM_000441.1:c.1900del NP_000432.1:p.Ile634Ter
XM_005250425.1:c.1900del XP_005250482.1:p.Ile634Ter
XM_005250425.2:c.1900del XP_005250482.1:p.Ile634Ter
XM_017012318.1:c.1822del XP_016867807.1:p.Ile608Ter
NM_000441.2:c.1900del MANE Select NP_000432.1:p.Ile634Ter
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