Canonical Allele Identifier: CA2580076182
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1725722
ClinVar RCV Id: RCV002309406
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710073_107710074del , CM000669.2:g.107710073_107710074del GRCh38
NC_000007.13:g.107350518_107350519del , CM000669.1:g.107350518_107350519del GRCh37
NC_000007.12:g.107137754_107137755del NCBI36
NG_008489.1:g.54439_54440del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2109_2110del MANE Select ENSP00000494017.1:p.Glu704AlafsTer6
ENST00000644846.1:c.765_766del
ENST00000265715.7:c.2109_2110del ENSP00000265715.3:p.Glu704AlafsTer6
ENST00000492030.2:n.377-82_377-81del
NM_000441.1:c.2109_2110del NP_000432.1:p.Glu704AlafsTer6
XM_005250425.1:c.2109_2110del XP_005250482.1:p.Glu704AlafsTer6
XM_005250425.2:c.2109_2110del XP_005250482.1:p.Glu704AlafsTer6
XM_017012318.1:c.2031_2032del XP_016867807.1:p.Glu678AlafsTer6
NM_000441.2:c.2109_2110del MANE Select NP_000432.1:p.Glu704AlafsTer6
Search 100 bp 5'
Search 100 bp 3'