Canonical Allele Identifier: CA2695208347
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107675095_107675096delinsTC , CM000669.2:g.107675095_107675096delinsTC GRCh38
NC_000007.13:g.107315540_107315541delinsTC , CM000669.1:g.107315540_107315541delinsTC GRCh37
NC_000007.12:g.107102776_107102777delinsTC NCBI36
NG_008489.1:g.19461_19462delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.751_752delinsTC MANE Select ENSP00000494017.1:p.Leu251Ser
ENST00000265715.7:c.751_752delinsTC ENSP00000265715.3:p.Leu251Ser
NM_000441.1:c.751_752delinsTC NP_000432.1:p.Leu251Ser
XM_005250425.1:c.751_752delinsTC XP_005250482.1:p.Leu251Ser
XM_006716025.2:c.751_752delinsTC XP_006716088.1:p.Leu251Ser
XM_005250425.2:c.751_752delinsTC XP_005250482.1:p.Leu251Ser
XM_006716025.3:c.751_752delinsTC XP_006716088.1:p.Leu251Ser
XM_017012318.1:c.751_752delinsTC XP_016867807.1:p.Leu251Ser
NM_000441.2:c.751_752delinsTC MANE Select NP_000432.1:p.Leu251Ser