Canonical Allele Identifier: CA1590738846
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981593_149981597delinsTGAAA , CM000667.2:g.149981593_149981597delinsTGAAA GRCh38
NC_000005.9:g.149361156_149361160delinsTGAAA , CM000667.1:g.149361156_149361160delinsTGAAA GRCh37
NC_000005.8:g.149341349_149341353delinsTGAAA NCBI36
NG_007147.2:g.22711_22715delinsTGAAA , LRG_684:g.22711_22715delinsTGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2000_2004delinsTGAAA MANE Select ENSP00000286298.4:p.Leu667=
ENST00000286298.4:c.2000_2004delinsTGAAA ENSP00000286298.4:p.Leu667=
ENST00000503336.1:c.372+3242_372+3246delinsTGAAA ENSP00000426053.1:n.372+3242_372+3246delinsTGAAA
NM_000112.3:c.2000_2004delinsTGAAA , LRG_684t1:c.2000_2004delinsTGAAA NP_000103.2:p.Leu667=
XM_017009191.2:c.2000_2004delinsTGAAA XP_016864680.1:p.Leu667=
NM_000112.4:c.2000_2004delinsTGAAA MANE Select NP_000103.2:p.Leu667=