Canonical Allele Identifier: CA16041113
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370498
ClinVar RCV Id: RCV000411353
dbSNP Id: rs1057516535

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696034_107696045del , CM000669.2:g.107696034_107696045del GRCh38
NC_000007.13:g.107336479_107336490del , CM000669.1:g.107336479_107336490del GRCh37
NC_000007.12:g.107123715_107123726del NCBI36
NG_008489.1:g.40400_40411del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1539_1544+6del
ENST00000644846.1:c.250_255+6del
ENST00000265715.7:c.1539_1544+6del
ENST00000477350.5:n.386_391+6del
ENST00000480841.5:n.388_393+6del
NM_000441.1:c.1539_1544+6del
XM_005250425.1:c.1539_1544+6del
XM_005250425.2:c.1539_1544+6del
XM_017012318.1:c.1461_1466+6del
NM_000441.2:c.1539_1544+6del