Canonical Allele Identifier: CA2534965532
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981439_149981440insTT , CM000667.2:g.149981439_149981440insTT GRCh38
NC_000005.9:g.149361002_149361003insTT , CM000667.1:g.149361002_149361003insTT GRCh37
NC_000005.8:g.149341195_149341196insTT NCBI36
NG_007147.2:g.22557_22558insTT , LRG_684:g.22557_22558insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1846_1847insTT MANE Select ENSP00000286298.4:p.Ala616ValfsTer11
ENST00000286298.4:c.1846_1847insTT ENSP00000286298.4:p.Ala616ValfsTer11
ENST00000503336.1:c.372+3088_372+3089insTT ENSP00000426053.1:n.372+3088_372+3089insTT
NM_000112.3:c.1846_1847insTT , LRG_684t1:c.1846_1847insTT NP_000103.2:p.Ala616ValfsTer11
XM_017009191.2:c.1846_1847insTT XP_016864680.1:p.Ala616ValfsTer11
NM_000112.4:c.1846_1847insTT MANE Select NP_000103.2:p.Ala616ValfsTer11
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