Canonical Allele Identifier: CA2578989089
Gene: SLC26A4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710138_107710139del , CM000669.2:g.107710138_107710139del GRCh38
NC_000007.13:g.107350583_107350584del , CM000669.1:g.107350583_107350584del GRCh37
NC_000007.12:g.107137819_107137820del NCBI36
NG_008489.1:g.54504_54505del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2174_2175del MANE Select ENSP00000494017.1:p.Ala725AspfsTer28
ENST00000644846.1:c.830_831del
ENST00000265715.7:c.2174_2175del ENSP00000265715.3:p.Ala725AspfsTer28
ENST00000492030.2:n.377-17_377-16del
NM_000441.1:c.2174_2175del NP_000432.1:p.Ala725AspfsTer28
XM_005250425.1:c.2174_2175del XP_005250482.1:p.Ala725AspfsTer28
XM_005250425.2:c.2174_2175del XP_005250482.1:p.Ala725AspfsTer28
XM_017012318.1:c.2096_2097del XP_016867807.1:p.Ala699AspfsTer28
NM_000441.2:c.2174_2175del MANE Select NP_000432.1:p.Ala725AspfsTer28
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