Canonical Allele Identifier: CA3505574
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs766854098
ExAC: 5:149361385 GTAGA / G
gnomAD v3: 5-149981822-GTAGA-G
gnomAD v4: 5-149981822-GTAGA-G
MyVariant Identifiers: chr5:g.149361386_149361389del (hg19) chr5:g.149981823_149981826del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981827_149981830del , CM000667.2:g.149981827_149981830del GRCh38
NC_000005.9:g.149361390_149361393del , CM000667.1:g.149361390_149361393del GRCh37
NC_000005.8:g.149341583_149341586del NCBI36
NG_007147.2:g.22945_22948del , LRG_684:g.22945_22948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*14_*17del MANE Select ENSP00000286298.4:n.*14_*17del
ENST00000286298.4:c.*14_*17del ENSP00000286298.4:n.*14_*17del
ENST00000503336.1:c.372+3476_372+3479del ENSP00000426053.1:n.372+3476_372+3479del
NM_000112.3:c.*14_*17del , LRG_684t1:c.*14_*17del NP_000103.2:n.*14_*17del
XM_017009191.2:c.*12+2_*12+5del
NM_000112.4:c.*14_*17del MANE Select NP_000103.2:n.*14_*17del
Search 100 bp 5'
Search 100 bp 3'