Canonical Allele Identifier: CA2675943490
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149978386-AAAGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978389_149978392del , CM000667.2:g.149978389_149978392del GRCh38
NC_000005.9:g.149357952_149357955del , CM000667.1:g.149357952_149357955del GRCh37
NC_000005.8:g.149338145_149338148del NCBI36
NG_007147.2:g.19507_19510del , LRG_684:g.19507_19510del

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.969_972del
ENST00000286298.5:c.699+38_699+41del MANE Select ENSP00000286298.4:n.699+38_699+41del
ENST00000286298.4:c.699+38_699+41del ENSP00000286298.4:n.699+38_699+41del
ENST00000503336.1:c.372+38_372+41del ENSP00000426053.1:n.372+38_372+41del
NM_000112.3:c.699+38_699+41del , LRG_684t1:c.699+38_699+41del NP_000103.2:n.699+38_699+41del
XM_017009191.2:c.699+38_699+41del XP_016864680.1:n.699+38_699+41del
NM_000112.4:c.699+38_699+41del MANE Select NP_000103.2:n.699+38_699+41del
Search 100 bp 5'
Search 100 bp 3'