Canonical Allele Identifier: CA2768879541
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981047_149981052dup , CM000667.2:g.149981047_149981052dup GRCh38
NC_000005.9:g.149360610_149360615dup , CM000667.1:g.149360610_149360615dup GRCh37
NC_000005.8:g.149340803_149340808dup NCBI36
NG_007147.2:g.22165_22170dup , LRG_684:g.22165_22170dup

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1454_1459dup MANE Select ENSP00000286298.4:p.Ile486_Thr487insMetIle
ENST00000286298.4:c.1454_1459dup ENSP00000286298.4:p.Ile486_Thr487insMetIle
ENST00000503336.1:c.372+2696_372+2701dup ENSP00000426053.1:n.372+2696_372+2701dup
NM_000112.3:c.1454_1459dup , LRG_684t1:c.1454_1459dup NP_000103.2:p.Ile486_Thr487insMetIle
XM_017009191.2:c.1454_1459dup XP_016864680.1:p.Ile486_Thr487insMetIle
NM_000112.4:c.1454_1459dup MANE Select NP_000103.2:p.Ile486_Thr487insMetIle