Canonical Allele Identifier: CA2768879808
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981879_149981881del , CM000667.2:g.149981879_149981881del GRCh38
NC_000005.9:g.149361442_149361444del , CM000667.1:g.149361442_149361444del GRCh37
NC_000005.8:g.149341635_149341637del NCBI36
NG_007147.2:g.22997_22999del , LRG_684:g.22997_22999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*66_*68del MANE Select ENSP00000286298.4:n.*66_*68del
ENST00000286298.4:c.*66_*68del ENSP00000286298.4:n.*66_*68del
ENST00000503336.1:c.372+3528_372+3530del ENSP00000426053.1:n.372+3528_372+3530del
NM_000112.3:c.*66_*68del , LRG_684t1:c.*66_*68del NP_000103.2:n.*66_*68del
XM_017009191.2:c.*13-50_*13-48del XP_016864680.1:n.*13-50_*13-48del
NM_000112.4:c.*66_*68del MANE Select NP_000103.2:n.*66_*68del