Canonical Allele Identifier: CA2684474027
Gene: SLC26A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779749del , CM000669.2:g.107779749del GRCh38
NC_000007.13:g.107420194del , CM000669.1:g.107420194del GRCh37
NC_000007.12:g.107207430del NCBI36
NG_008046.1:g.28487del , LRG_683:g.28487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1328del MANE Select ENSP00000345873.5:p.Leu443Ter
ENST00000340010.9:c.1328del ENSP00000345873.5:p.Leu443Ter
ENST00000379083.7:c.*1119del ENSP00000368375.3:n.*1119del
NM_000111.2:c.1328del , LRG_683t1:c.1328del NP_000102.1:p.Leu443Ter
XM_011515867.1:c.1328del XP_011514169.1:p.Leu443Ter
NM_000111.3:c.1328del MANE Select NP_000102.1:p.Leu443Ter