Canonical Allele Identifier: CA1732787115
Gene: SLC26A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779312_107779313delinsCA , CM000669.2:g.107779312_107779313delinsCA GRCh38
NC_000007.13:g.107419757_107419758delinsCA , CM000669.1:g.107419757_107419758delinsCA GRCh37
NC_000007.12:g.107206993_107206994delinsCA NCBI36
NG_008046.1:g.28921_28922delinsTG , LRG_683:g.28921_28922delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1407+355_1407+356delinsTG MANE Select ENSP00000345873.5:n.1407+355_1407+356delinsTG
ENST00000340010.9:c.1407+355_1407+356delinsTG ENSP00000345873.5:n.1407+355_1407+356delinsTG
ENST00000379083.7:c.*1198+355_*1198+356delinsTG ENSP00000368375.3:n.*1198+355_*1198+356delinsTG
NM_000111.2:c.1407+355_1407+356delinsTG , LRG_683t1:c.1407+355_1407+356delinsTG NP_000102.1:n.1407+355_1407+356delinsTG
XM_011515867.1:c.1407+355_1407+356delinsTG XP_011514169.1:n.1407+355_1407+356delinsTG
NM_000111.3:c.1407+355_1407+356delinsTG MANE Select NP_000102.1:n.1407+355_1407+356delinsTG