Canonical Allele Identifier: CA2531271766
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980971del , CM000667.2:g.149980971del GRCh38
NC_000005.9:g.149360534del , CM000667.1:g.149360534del GRCh37
NC_000005.8:g.149340727del NCBI36
NG_007147.2:g.22089del , LRG_684:g.22089del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1378del MANE Select ENSP00000286298.4:p.Thr460GlnfsTer10
ENST00000286298.4:c.1378del ENSP00000286298.4:p.Thr460GlnfsTer10
ENST00000503336.1:c.372+2620del ENSP00000426053.1:n.372+2620del
NM_000112.3:c.1378del , LRG_684t1:c.1378del NP_000103.2:p.Thr460GlnfsTer10
XM_017009191.2:c.1378del XP_016864680.1:p.Thr460GlnfsTer10
NM_000112.4:c.1378del MANE Select NP_000103.2:p.Thr460GlnfsTer10
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