Canonical Allele Identifier: CA2768879961
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978233_149978239del , CM000667.2:g.149978233_149978239del GRCh38
NC_000005.9:g.149357796_149357802del , CM000667.1:g.149357796_149357802del GRCh37
NC_000005.8:g.149337989_149337995del NCBI36
NG_007147.2:g.19351_19357del , LRG_684:g.19351_19357del

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.813_819del
ENST00000286298.5:c.581_587del MANE Select ENSP00000286298.4:p.Leu194TrpfsTer9
ENST00000286298.4:c.581_587del ENSP00000286298.4:p.Leu194TrpfsTer9
ENST00000503336.1:c.254_260del ENSP00000426053.1:p.Leu85TrpfsTer9
NM_000112.3:c.581_587del , LRG_684t1:c.581_587del NP_000103.2:p.Leu194TrpfsTer9
XM_017009191.2:c.581_587del XP_016864680.1:p.Leu194TrpfsTer9
NM_000112.4:c.581_587del MANE Select NP_000103.2:p.Leu194TrpfsTer9