Canonical Allele Identifier: CA144061
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 55976
ClinVar RCV Id: RCV000049385
dbSNP Id: rs386833458
MyVariant Identifiers: chr7:g.107417153del (hg19) chr7:g.107776708del (hg38)
PubMed: PMID:11524734
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107776708del , CM000669.2:g.107776708del GRCh38
NC_000007.13:g.107417153del , CM000669.1:g.107417153del GRCh37
NC_000007.12:g.107204389del NCBI36
NG_008046.1:g.31526del , LRG_683:g.31526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1515-2del MANE Select ENSP00000345873.5:n.1515-2del
ENST00000340010.9:c.1515-2del ENSP00000345873.5:n.1515-2del
ENST00000379083.7:c.*1306-2del ENSP00000368375.3:n.*1306-2del
ENST00000469651.1:n.45del
NM_000111.2:c.1515-2del , LRG_683t1:c.1515-2del NP_000102.1:n.1515-2del
XM_011515867.1:c.1515-2del XP_011514169.1:n.1515-2del
NM_000111.3:c.1515-2del MANE Select NP_000102.1:n.1515-2del
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