Canonical Allele Identifier: CA577031014
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1792374868
gnomAD v2: 7-107357838-GTGAATGTAATAGTCTTGCAGAAAATGAA-G
gnomAD v3: 7-107717393-GTGAATGTAATAGTCTTGCAGAAAATGAA-G
gnomAD v4: 7-107717393-GTGAATGTAATAGTCTTGCAGAAAATGAA-G
MyVariant Identifiers: chr7:g.107357839_107357866del (hg19) chr7:g.107717394_107717421del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107717399_107717426del , CM000669.2:g.107717399_107717426del GRCh38
NC_000007.13:g.107357844_107357871del , CM000669.1:g.107357844_107357871del GRCh37
NC_000007.12:g.107145080_107145107del NCBI36
NG_008489.1:g.61765_61792del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.*1953_*1980del MANE Select ENSP00000494017.1:n.*1953_*1980del
ENST00000265715.7:c.*1953_*1980del ENSP00000265715.3:n.*1953_*1980del
NM_000441.1:c.*1953_*1980del NP_000432.1:n.*1953_*1980del
NM_000441.2:c.*1953_*1980del MANE Select NP_000432.1:n.*1953_*1980del
Search 100 bp 5'
Search 100 bp 3'