Canonical Allele Identifier: CA1732746109
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1790956480
gnomAD v4: 7-107674281-C-CTGCAGCTAGAGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107674283_107674294dup , CM000669.2:g.107674283_107674294dup GRCh38
NC_000007.13:g.107314728_107314739dup , CM000669.1:g.107314728_107314739dup GRCh37
NC_000007.12:g.107101964_107101975dup NCBI36
NG_008489.1:g.18649_18660dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.535_546dup MANE Select ENSP00000494017.1:p.Asp182_Thr183insAlaAl...
ENST00000265715.7:c.535_546dup ENSP00000265715.3:p.Asp182_Thr183insAlaAl...
NM_000441.1:c.535_546dup NP_000432.1:p.Asp182_Thr183insAlaAlaArgAs...
XM_005250425.1:c.535_546dup XP_005250482.1:p.Asp182_Thr183insAlaAlaAr...
XM_006716025.2:c.535_546dup XP_006716088.1:p.Asp182_Thr183insAlaAlaAr...
XM_005250425.2:c.535_546dup XP_005250482.1:p.Asp182_Thr183insAlaAlaAr...
XM_006716025.3:c.535_546dup XP_006716088.1:p.Asp182_Thr183insAlaAlaAr...
XM_017012318.1:c.535_546dup XP_016867807.1:p.Asp182_Thr183insAlaAlaAr...
NM_000441.2:c.535_546dup MANE Select NP_000432.1:p.Asp182_Thr183insAlaAlaArgAs...
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