Canonical Allele Identifier: CA2580076143

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1992946
• ClinVar RCV Id: RCV002796308

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663373dup , CM000669.2:g.107663373dup	GRCh38
NC_000007.13:g.107303818dup , CM000669.1:g.107303818dup	GRCh37
NC_000007.12:g.107091054dup	NCBI36
NG_008489.1:g.7739dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.242dup MANE Select	ENSP00000494017.1:p.Glu82GlyfsTer5
ENST00000265715.7:c.242dup	ENSP00000265715.3:p.Glu82GlyfsTer5
ENST00000440056.1:c.242dup	ENSP00000394760.1:p.Glu82GlyfsTer5
NM_000441.1:c.242dup	NP_000432.1:p.Glu82GlyfsTer5
XM_005250425.1:c.242dup	XP_005250482.1:p.Glu82GlyfsTer5
XM_006716025.2:c.242dup	XP_006716088.1:p.Glu82GlyfsTer5
XM_005250425.2:c.242dup	XP_005250482.1:p.Glu82GlyfsTer5
XM_006716025.3:c.242dup	XP_006716088.1:p.Glu82GlyfsTer5
XM_017012318.1:c.242dup	XP_016867807.1:p.Glu82GlyfsTer5
NM_000441.2:c.242dup MANE Select	NP_000432.1:p.Glu82GlyfsTer5