Canonical Allele Identifier: CA274209
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 188978
dbSNP Id: rs786204601

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696015del , CM000669.2:g.107696015del GRCh38
NC_000007.13:g.107336460del , CM000669.1:g.107336460del GRCh37
NC_000007.12:g.107123696del NCBI36
NG_008489.1:g.40381del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1520del MANE Select ENSP00000494017.1:p.Leu507Ter
ENST00000644846.1:c.231del
ENST00000265715.7:c.1520del ENSP00000265715.3:p.Leu507Ter
ENST00000477350.5:n.367del
ENST00000480841.5:n.369del
ENST00000497446.5:n.535del
NM_000441.1:c.1520del NP_000432.1:p.Leu507Ter
XM_005250425.1:c.1520del XP_005250482.1:p.Leu507Ter
XM_005250425.2:c.1520del XP_005250482.1:p.Leu507Ter
XM_017012318.1:c.1442del XP_016867807.1:p.Leu481Ter
NM_000441.2:c.1520del MANE Select NP_000432.1:p.Leu507Ter