Canonical Allele Identifier: CA913184816
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4832
ClinVar RCV Id: RCV000005103
dbSNP Id: rs1584344687
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710146_107710147insG , CM000669.2:g.107710146_107710147insG GRCh38
NC_000007.13:g.107350591_107350592insG , CM000669.1:g.107350591_107350592insG GRCh37
NC_000007.12:g.107137827_107137828insG NCBI36
NG_008489.1:g.54512_54513insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2182_2183insG MANE Select ENSP00000494017.1:p.Tyr728Ter
ENST00000644846.1:c.838_839insG
ENST00000265715.7:c.2182_2183insG ENSP00000265715.3:p.Tyr728Ter
ENST00000492030.2:n.377-9_377-8insG
NM_000441.1:c.2182_2183insG NP_000432.1:p.Tyr728Ter
XM_005250425.1:c.2182_2183insG XP_005250482.1:p.Tyr728Ter
XM_005250425.2:c.2182_2183insG XP_005250482.1:p.Tyr728Ter
XM_017012318.1:c.2104_2105insG XP_016867807.1:p.Tyr702Ter
NM_000441.2:c.2182_2183insG MANE Select NP_000432.1:p.Tyr728Ter
Search 100 bp 5'
Search 100 bp 3'