Canonical Allele Identifier: CA144082

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 55990
• ClinVar RCV Id: RCV000049399
• dbSNP Id: rs386833472
• MyVariant Identifiers: chr7:g.107408311_107408312delinsAAATTTTGAATTTTCACTTCAAAACCGGT (hg19) ; chr7:g.107767866_107767867delinsAAATTTTGAATTTTCACTTCAAAACCGGT (hg38)
• PubMed: PMID:11524734

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107767866_107767867delinsAAATTTTGAATTTTCACTTCAAAACCGGT , CM000669.2:g.107767866_107767867delinsAAATTTTGAATTTTCACTTCAAAACCGGT	GRCh38
NC_000007.13:g.107408311_107408312delinsAAATTTTGAATTTTCACTTCAAAACCGGT , CM000669.1:g.107408311_107408312delinsAAATTTTGAATTTTCACTTCAAAACCGGT	GRCh37
NC_000007.12:g.107195547_107195548delinsAAATTTTGAATTTTCACTTCAAAACCGGT	NCBI36
NG_008046.1:g.40367_40368delinsACCGGTTTTGAAGTGAAAATTCAAAATTT , LRG_683:g.40367_40368delinsACCGGTTTTGAAGTGAAAATTCAAAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT MANE Select	ENSP00000345873.5:p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPh...
ENST00000340010.9:c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT	ENSP00000345873.5:p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPh...
ENST00000379083.7:c.*1661_*1662delinsACCGGTTTTGAAGTGAAAATTCAAAATTT	ENSP00000368375.3:n.*1661_*1662delinsACCGGTTTTGAAGTGAAAATTCAA...
NM_000111.2:c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT , LRG_683t1:c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT	NP_000102.1:p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe
XM_011515867.1:c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT	XP_011514169.1:p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe
NM_000111.3:c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT MANE Select	NP_000102.1:p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe