Canonical Allele Identifier: CA1590738934
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1755110583
gnomAD v4: 5-149981766-CAGAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981769_149981772del , CM000667.2:g.149981769_149981772del GRCh38
NC_000005.9:g.149361332_149361335del , CM000667.1:g.149361332_149361335del GRCh37
NC_000005.8:g.149341525_149341528del NCBI36
NG_007147.2:g.22887_22890del , LRG_684:g.22887_22890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2176_2179del MANE Select ENSP00000286298.4:p.Lys726GlufsTer8
ENST00000286298.4:c.2176_2179del ENSP00000286298.4:p.Lys726GlufsTer8
ENST00000503336.1:c.372+3418_372+3421del ENSP00000426053.1:n.372+3418_372+3421del
NM_000112.3:c.2176_2179del , LRG_684t1:c.2176_2179del NP_000103.2:p.Lys726GlufsTer8
XM_017009191.2:c.2176_2179del XP_016864680.1:p.Lys726GlufsTer8
NM_000112.4:c.2176_2179del MANE Select NP_000103.2:p.Lys726GlufsTer8
Search 100 bp 5'
Search 100 bp 3'