Canonical Allele Identifier: CA10622941
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 358529
ClinVar RCV Id: RCV000333136 RCV000371552
dbSNP Id: rs886061895
gnomAD v2: 7-107358139-TGA-T
gnomAD v3: 7-107717694-TGA-T
gnomAD v4: 7-107717694-TGA-T
MyVariant Identifiers: chr7:g.107358141_107358142del (hg19) chr7:g.107358140_107358141del (hg19) chr7:g.107717696_107717697del (hg38) chr7:g.107717695_107717696del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107717696_107717697del , CM000669.2:g.107717696_107717697del GRCh38
NC_000007.13:g.107358141_107358142del , CM000669.1:g.107358141_107358142del GRCh37
NC_000007.12:g.107145377_107145378del NCBI36
NG_008489.1:g.62062_62063del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.*2250_*2251del MANE Select ENSP00000494017.1:n.*2250_*2251del
ENST00000265715.7:c.*2250_*2251del ENSP00000265715.3:n.*2250_*2251del
NM_000441.1:c.*2250_*2251del NP_000432.1:n.*2250_*2251del
NM_000441.2:c.*2250_*2251del MANE Select NP_000432.1:n.*2250_*2251del
Search 100 bp 5'
Search 100 bp 3'