Canonical Allele Identifier: CA831174172
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1289838102
gnomAD v2: 7-107350343-AG-A
gnomAD v3: 7-107709898-AG-A
gnomAD v4: 7-107709898-AG-A
MyVariant Identifiers: chr7:g.107350344del (hg19) chr7:g.107709899del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107709900del , CM000669.2:g.107709900del GRCh38
NC_000007.13:g.107350345del , CM000669.1:g.107350345del GRCh37
NC_000007.12:g.107137581del NCBI36
NG_008489.1:g.54266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2090-154del MANE Select ENSP00000494017.1:n.2090-154del
ENST00000644846.1:c.746-154del
ENST00000265715.7:c.2090-154del ENSP00000265715.3:n.2090-154del
ENST00000492030.2:n.377-255del
NM_000441.1:c.2090-154del NP_000432.1:n.2090-154del
XM_005250425.1:c.2090-154del XP_005250482.1:n.2090-154del
XM_005250425.2:c.2090-154del XP_005250482.1:n.2090-154del
XM_017012318.1:c.2012-154del XP_016867807.1:n.2012-154del
NM_000441.2:c.2090-154del MANE Select NP_000432.1:n.2090-154del
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