Canonical Allele Identifier: CA2768879805
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981872_149981874del , CM000667.2:g.149981872_149981874del GRCh38
NC_000005.9:g.149361435_149361437del , CM000667.1:g.149361435_149361437del GRCh37
NC_000005.8:g.149341628_149341630del NCBI36
NG_007147.2:g.22990_22992del , LRG_684:g.22990_22992del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*59_*61del MANE Select ENSP00000286298.4:n.*59_*61del
ENST00000286298.4:c.*59_*61del ENSP00000286298.4:n.*59_*61del
ENST00000503336.1:c.372+3521_372+3523del ENSP00000426053.1:n.372+3521_372+3523del
NM_000112.3:c.*59_*61del , LRG_684t1:c.*59_*61del NP_000103.2:n.*59_*61del
XM_017009191.2:c.*12+47_*12+49del XP_016864680.1:n.*12+47_*12+49del
NM_000112.4:c.*59_*61del MANE Select NP_000103.2:n.*59_*61del