Canonical Allele Identifier: CA2777358104
Gene: SLC26A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767771_107767772del , CM000669.2:g.107767771_107767772del GRCh38
NC_000007.13:g.107408216_107408217del , CM000669.1:g.107408216_107408217del GRCh37
NC_000007.12:g.107195452_107195453del NCBI36
NG_008046.1:g.40462_40463del , LRG_683:g.40462_40463del

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.2199_2200del MANE Select ENSP00000345873.5:p.Gln735GlyfsTer7
ENST00000340010.9:c.2199_2200del ENSP00000345873.5:p.Gln735GlyfsTer7
ENST00000379083.7:c.*1756_*1757del ENSP00000368375.3:n.*1756_*1757del
NM_000111.2:c.2199_2200del , LRG_683t1:c.2199_2200del NP_000102.1:p.Gln735GlyfsTer7
XM_011515867.1:c.2199_2200del XP_011514169.1:p.Gln735GlyfsTer7
NM_000111.3:c.2199_2200del MANE Select NP_000102.1:p.Gln735GlyfsTer7
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