Canonical Allele Identifier: CA267506

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 97015
• ClinVar RCV Id: RCV000083261
• dbSNP Id: rs431905486

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683533dup , CM000669.2:g.107683533dup	GRCh38
NC_000007.13:g.107323978dup , CM000669.1:g.107323978dup	GRCh37
NC_000007.12:g.107111214dup	NCBI36
NG_008489.1:g.27899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.997dup MANE Select	ENSP00000494017.1:p.Arg333LysfsTer7
ENST00000265715.7:c.997dup	ENSP00000265715.3:p.Arg333LysfsTer7
NM_000441.1:c.997dup	NP_000432.1:p.Arg333LysfsTer7
XM_005250425.1:c.997dup	XP_005250482.1:p.Arg333LysfsTer7
XM_006716025.2:c.997dup	XP_006716088.1:p.Arg333LysfsTer7
XM_005250425.2:c.997dup	XP_005250482.1:p.Arg333LysfsTer7
XM_006716025.3:c.997dup	XP_006716088.1:p.Arg333LysfsTer7
XM_017012318.1:c.997dup	XP_016867807.1:p.Arg333LysfsTer7
NM_000441.2:c.997dup MANE Select	NP_000432.1:p.Arg333LysfsTer7