Canonical Allele Identifier: CA1732753182
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696027_107696029delinsTGA , CM000669.2:g.107696027_107696029delinsTGA GRCh38
NC_000007.13:g.107336472_107336474delinsTGA , CM000669.1:g.107336472_107336474delinsTGA GRCh37
NC_000007.12:g.107123708_107123710delinsTGA NCBI36
NG_008489.1:g.40393_40395delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1532_1534delinsTGA MANE Select ENSP00000494017.1:p.Leu511=
ENST00000644846.1:c.243_245delinsTGA
ENST00000265715.7:c.1532_1534delinsTGA ENSP00000265715.3:p.Leu511=
ENST00000477350.5:n.379_381delinsTGA
ENST00000480841.5:n.381_383delinsTGA
ENST00000497446.5:n.547_549delinsTGA
NM_000441.1:c.1532_1534delinsTGA NP_000432.1:p.Leu511=
XM_005250425.1:c.1532_1534delinsTGA XP_005250482.1:p.Leu511=
XM_005250425.2:c.1532_1534delinsTGA XP_005250482.1:p.Leu511=
XM_017012318.1:c.1454_1456delinsTGA XP_016867807.1:p.Leu485=
NM_000441.2:c.1532_1534delinsTGA MANE Select NP_000432.1:p.Leu511=