Canonical Allele Identifier: CA1732787129
Gene: SLC26A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779328_107779331delinsTGAA , CM000669.2:g.107779328_107779331delinsTGAA GRCh38
NC_000007.13:g.107419773_107419776delinsTGAA , CM000669.1:g.107419773_107419776delinsTGAA GRCh37
NC_000007.12:g.107207009_107207012delinsTGAA NCBI36
NG_008046.1:g.28903_28906delinsTTCA , LRG_683:g.28903_28906delinsTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1407+337_1407+340delinsTTCA MANE Select ENSP00000345873.5:n.1407+337_1407+340delinsTTCA
ENST00000340010.9:c.1407+337_1407+340delinsTTCA ENSP00000345873.5:n.1407+337_1407+340delinsTTCA
ENST00000379083.7:c.*1198+337_*1198+340delinsTTCA ENSP00000368375.3:n.*1198+337_*1198+340delinsTTCA
NM_000111.2:c.1407+337_1407+340delinsTTCA , LRG_683t1:c.1407+337_1407+340delinsTTCA NP_000102.1:n.1407+337_1407+340delinsTTCA
XM_011515867.1:c.1407+337_1407+340delinsTTCA XP_011514169.1:n.1407+337_1407+340delinsTTCA
NM_000111.3:c.1407+337_1407+340delinsTTCA MANE Select NP_000102.1:n.1407+337_1407+340delinsTTCA