Canonical Allele Identifier: CA577030685
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 851431
ClinVar RCV Id: RCV001055826 RCV001275120 RCV003473658
dbSNP Id: rs1421964916
gnomAD v2: 7-107350582-G-GCTAT
gnomAD v3: 7-107710137-G-GCTAT
gnomAD v4: 7-107710137-G-GCTAT
MyVariant Identifiers: chr7:g.107350582_107350583insCTAT (hg19) chr7:g.107710137_107710138insCTAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710138_107710141dup , CM000669.2:g.107710138_107710141dup GRCh38
NC_000007.13:g.107350583_107350586dup , CM000669.1:g.107350583_107350586dup GRCh37
NC_000007.12:g.107137819_107137822dup NCBI36
NG_008489.1:g.54504_54507dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2174_2177dup MANE Select ENSP00000494017.1:p.Leu727TyrfsTer28
ENST00000644846.1:c.830_833dup
ENST00000265715.7:c.2174_2177dup ENSP00000265715.3:p.Leu727TyrfsTer28
ENST00000492030.2:n.377-17_377-14dup
NM_000441.1:c.2174_2177dup NP_000432.1:p.Leu727TyrfsTer28
XM_005250425.1:c.2174_2177dup XP_005250482.1:p.Leu727TyrfsTer28
XM_005250425.2:c.2174_2177dup XP_005250482.1:p.Leu727TyrfsTer28
XM_017012318.1:c.2096_2099dup XP_016867807.1:p.Leu701TyrfsTer28
NM_000441.2:c.2174_2177dup MANE Select NP_000432.1:p.Leu727TyrfsTer28
Search 100 bp 5'
Search 100 bp 3'