Canonical Allele Identifier: CA2533148363
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149981885-CAGTGGGAAATTTTGCACACTTGAAATTTTAACCA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981891_149981924del , CM000667.2:g.149981891_149981924del GRCh38
NC_000005.9:g.149361454_149361487del , CM000667.1:g.149361454_149361487del GRCh37
NC_000005.8:g.149341647_149341680del NCBI36
NG_007147.2:g.23009_23042del , LRG_684:g.23009_23042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*78_*111del MANE Select ENSP00000286298.4:n.*78_*111del
ENST00000286298.4:c.*78_*111del ENSP00000286298.4:n.*78_*111del
ENST00000503336.1:c.372+3540_372+3573del ENSP00000426053.1:n.372+3540_372+3573del
NM_000112.3:c.*78_*111del , LRG_684t1:c.*78_*111del NP_000103.2:n.*78_*111del
XM_017009191.2:c.*13-38_*13-5del XP_016864680.1:n.*13-38_*13-5del
NM_000112.4:c.*78_*111del MANE Select NP_000103.2:n.*78_*111del
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