Canonical Allele Identifier: CA2768879806
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981879_149981884del , CM000667.2:g.149981879_149981884del GRCh38
NC_000005.9:g.149361442_149361447del , CM000667.1:g.149361442_149361447del GRCh37
NC_000005.8:g.149341635_149341640del NCBI36
NG_007147.2:g.22997_23002del , LRG_684:g.22997_23002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*66_*71del MANE Select ENSP00000286298.4:n.*66_*71del
ENST00000286298.4:c.*66_*71del ENSP00000286298.4:n.*66_*71del
ENST00000503336.1:c.372+3528_372+3533del ENSP00000426053.1:n.372+3528_372+3533del
NM_000112.3:c.*66_*71del , LRG_684t1:c.*66_*71del NP_000103.2:n.*66_*71del
XM_017009191.2:c.*13-50_*13-45del XP_016864680.1:n.*13-50_*13-45del
NM_000112.4:c.*66_*71del MANE Select NP_000103.2:n.*66_*71del