Canonical Allele Identifier: CA2578989669
Gene: SLC26A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779595del , CM000669.2:g.107779595del GRCh38
NC_000007.13:g.107420040del , CM000669.1:g.107420040del GRCh37
NC_000007.12:g.107207276del NCBI36
NG_008046.1:g.28641del , LRG_683:g.28641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1407+75del MANE Select ENSP00000345873.5:n.1407+75del
ENST00000340010.9:c.1407+75del ENSP00000345873.5:n.1407+75del
ENST00000379083.7:c.*1198+75del ENSP00000368375.3:n.*1198+75del
NM_000111.2:c.1407+75del , LRG_683t1:c.1407+75del NP_000102.1:n.1407+75del
XM_011515867.1:c.1407+75del XP_011514169.1:n.1407+75del
NM_000111.3:c.1407+75del MANE Select NP_000102.1:n.1407+75del