Canonical Allele Identifier: CA577030686
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 552774
ClinVar RCV Id: RCV000668097 RCV001868220
dbSNP Id: rs1298217152
gnomAD v2: 7-107350583-C-CTA
gnomAD v3: 7-107710138-C-CTA
gnomAD v4: 7-107710138-C-CTA
MyVariant Identifiers: chr7:g.107350583_107350584insTA (hg19) chr7:g.107710141_107710142dup (hg38) chr7:g.107710138_107710139insTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710141_107710142dup , CM000669.2:g.107710141_107710142dup GRCh38
NC_000007.13:g.107350586_107350587dup , CM000669.1:g.107350586_107350587dup GRCh37
NC_000007.12:g.107137822_107137823dup NCBI36
NG_008489.1:g.54507_54508dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2177_2178dup MANE Select ENSP00000494017.1:p.Leu727TyrfsTer8
ENST00000644846.1:c.833_834dup
ENST00000265715.7:c.2177_2178dup ENSP00000265715.3:p.Leu727TyrfsTer8
ENST00000492030.2:n.377-14_377-13dup
NM_000441.1:c.2177_2178dup NP_000432.1:p.Leu727TyrfsTer8
XM_005250425.1:c.2177_2178dup XP_005250482.1:p.Leu727TyrfsTer8
XM_005250425.2:c.2177_2178dup XP_005250482.1:p.Leu727TyrfsTer8
XM_017012318.1:c.2099_2100dup XP_016867807.1:p.Leu701TyrfsTer8
NM_000441.2:c.2177_2178dup MANE Select NP_000432.1:p.Leu727TyrfsTer8
Search 100 bp 5'
Search 100 bp 3'