Canonical Allele Identifier: CA2578449488
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981914del , CM000667.2:g.149981914del GRCh38
NC_000005.9:g.149361477del , CM000667.1:g.149361477del GRCh37
NC_000005.8:g.149341670del NCBI36
NG_007147.2:g.23032del , LRG_684:g.23032del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*101del MANE Select ENSP00000286298.4:n.*101del
ENST00000286298.4:c.*101del ENSP00000286298.4:n.*101del
ENST00000503336.1:c.372+3563del ENSP00000426053.1:n.372+3563del
NM_000112.3:c.*101del , LRG_684t1:c.*101del NP_000103.2:n.*101del
XM_017009191.2:c.*13-15del XP_016864680.1:n.*13-15del
NM_000112.4:c.*101del MANE Select NP_000103.2:n.*101del