Canonical Allele Identifier: CA2684468715
Gene: SLC26A4 HGNC NCBI

Linked Data

gnomAD v4: 7-107710163-G-GGGGTCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710163_107710164insGGGTCA , CM000669.2:g.107710163_107710164insGGGTCA GRCh38
NC_000007.13:g.107350608_107350609insGGGTCA , CM000669.1:g.107350608_107350609insGGGTCA GRCh37
NC_000007.12:g.107137844_107137845insGGGTCA NCBI36
NG_008489.1:g.54529_54530insGGGTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2199_2200insGGGTCA MANE Select ENSP00000494017.1:p.Val733_Lys734insGlySer
ENST00000644846.1:c.855_856insGGGTCA
ENST00000265715.7:c.2199_2200insGGGTCA ENSP00000265715.3:p.Val733_Lys734insGlySer
ENST00000492030.2:n.385_386insGGGTCA
NM_000441.1:c.2199_2200insGGGTCA NP_000432.1:p.Val733_Lys734insGlySer
XM_005250425.1:c.2199_2200insGGGTCA XP_005250482.1:p.Val733_Lys734insGlySer
XM_005250425.2:c.2199_2200insGGGTCA XP_005250482.1:p.Val733_Lys734insGlySer
XM_017012318.1:c.2121_2122insGGGTCA XP_016867807.1:p.Val707_Lys708insGlySer
NM_000441.2:c.2199_2200insGGGTCA MANE Select NP_000432.1:p.Val733_Lys734insGlySer
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