Canonical Allele Identifier: CA577030684
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 996673
ClinVar RCV Id: RCV001291351
dbSNP Id: rs1374832271
gnomAD v2: 7-107350514-AG-A
gnomAD v4: 7-107710069-AG-A
MyVariant Identifiers: chr7:g.107350515del (hg19) chr7:g.107710070del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710070del , CM000669.2:g.107710070del GRCh38
NC_000007.13:g.107350515del , CM000669.1:g.107350515del GRCh37
NC_000007.12:g.107137751del NCBI36
NG_008489.1:g.54436del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2106del MANE Select ENSP00000494017.1:p.Lys702AsnfsTer19
ENST00000644846.1:c.762del
ENST00000265715.7:c.2106del ENSP00000265715.3:p.Lys702AsnfsTer19
ENST00000492030.2:n.377-85del
NM_000441.1:c.2106del NP_000432.1:p.Lys702AsnfsTer19
XM_005250425.1:c.2106del XP_005250482.1:p.Lys702AsnfsTer19
XM_005250425.2:c.2106del XP_005250482.1:p.Lys702AsnfsTer19
XM_017012318.1:c.2028del XP_016867807.1:p.Lys676AsnfsTer19
NM_000441.2:c.2106del MANE Select NP_000432.1:p.Lys702AsnfsTer19
Search 100 bp 5'
Search 100 bp 3'