Canonical Allele Identifier: CA1732751357
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1033030
ClinVar RCV Id: RCV001335322
dbSNP Id: rs1792142540
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710148_107710151dup , CM000669.2:g.107710148_107710151dup GRCh38
NC_000007.13:g.107350593_107350596dup , CM000669.1:g.107350593_107350596dup GRCh37
NC_000007.12:g.107137829_107137832dup NCBI36
NG_008489.1:g.54514_54517dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2184_2187dup MANE Select ENSP00000494017.1:p.Gln730SerfsTer25
ENST00000644846.1:c.840_843dup
ENST00000265715.7:c.2184_2187dup ENSP00000265715.3:p.Gln730SerfsTer25
ENST00000492030.2:n.377-7_377-4dup
NM_000441.1:c.2184_2187dup NP_000432.1:p.Gln730SerfsTer25
XM_005250425.1:c.2184_2187dup XP_005250482.1:p.Gln730SerfsTer25
XM_005250425.2:c.2184_2187dup XP_005250482.1:p.Gln730SerfsTer25
XM_017012318.1:c.2106_2109dup XP_016867807.1:p.Gln704SerfsTer25
NM_000441.2:c.2184_2187dup MANE Select NP_000432.1:p.Gln730SerfsTer25
Search 100 bp 5'
Search 100 bp 3'