Canonical Allele Identifier: CA144085
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 55991
ClinVar RCV Id: RCV000049400
dbSNP Id: rs386833473
MyVariant Identifiers: chr7:g.107408300del (hg19) chr7:g.107767855del (hg38)
PubMed: PMID:9554749
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767858del , CM000669.2:g.107767858del GRCh38
NC_000007.13:g.107408303del , CM000669.1:g.107408303del GRCh37
NC_000007.12:g.107195539del NCBI36
NG_008046.1:g.40379del , LRG_683:g.40379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.2116del MANE Select ENSP00000345873.5:p.Ser706AlafsTer6
ENST00000340010.9:c.2116del ENSP00000345873.5:p.Ser706AlafsTer6
ENST00000379083.7:c.*1673del ENSP00000368375.3:n.*1673del
NM_000111.2:c.2116del , LRG_683t1:c.2116del NP_000102.1:p.Ser706AlafsTer6
XM_011515867.1:c.2116del XP_011514169.1:p.Ser706AlafsTer6
NM_000111.3:c.2116del MANE Select NP_000102.1:p.Ser706AlafsTer6
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