Canonical Allele Identifier: CA164215102
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1271168
ClinVar RCV Id: RCV001680689
dbSNP Id: rs367623525
gnomAD v2: 7-107336262-GA-G
gnomAD v3: 7-107695817-GA-G
gnomAD v4: 7-107695817-GA-G
MyVariant Identifiers: chr7:g.107336263del (hg19) chr7:g.107695818del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695828del , CM000669.2:g.107695828del GRCh38
NC_000007.13:g.107336273del , CM000669.1:g.107336273del GRCh37
NC_000007.12:g.107123509del NCBI36
NG_008489.1:g.40194del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1438-105del MANE Select ENSP00000494017.1:n.1438-105del
ENST00000644846.1:c.149-105del
ENST00000265715.7:c.1438-105del ENSP00000265715.3:n.1438-105del
ENST00000460748.1:n.541-105del
ENST00000477350.5:n.285-105del
ENST00000480841.5:n.287-105del
ENST00000497446.5:n.453-105del
NM_000441.1:c.1438-105del NP_000432.1:n.1438-105del
XM_005250425.1:c.1438-105del XP_005250482.1:n.1438-105del
XM_005250425.2:c.1438-105del XP_005250482.1:n.1438-105del
XM_017012318.1:c.1360-105del XP_016867807.1:n.1360-105del
NM_000441.2:c.1438-105del MANE Select NP_000432.1:n.1438-105del
Search 100 bp 5'
Search 100 bp 3'