Canonical Allele Identifier: CA915945412

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 817026
• ClinVar RCV Id: RCV001008076
• dbSNP Id: rs1584306754

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107674285_107674286delinsC , CM000669.2:g.107674285_107674286delinsC	GRCh38
NC_000007.13:g.107314730_107314731delinsC , CM000669.1:g.107314730_107314731delinsC	GRCh37
NC_000007.12:g.107101966_107101967delinsC	NCBI36
NG_008489.1:g.18651_18652delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.537_538delinsC MANE Select	ENSP00000494017.1:p.Ala180LeufsTer8
ENST00000265715.7:c.537_538delinsC	ENSP00000265715.3:p.Ala180LeufsTer8
NM_000441.1:c.537_538delinsC	NP_000432.1:p.Ala180LeufsTer8
XM_005250425.1:c.537_538delinsC	XP_005250482.1:p.Ala180LeufsTer8
XM_006716025.2:c.537_538delinsC	XP_006716088.1:p.Ala180LeufsTer8
XM_005250425.2:c.537_538delinsC	XP_005250482.1:p.Ala180LeufsTer8
XM_006716025.3:c.537_538delinsC	XP_006716088.1:p.Ala180LeufsTer8
XM_017012318.1:c.537_538delinsC	XP_016867807.1:p.Ala180LeufsTer8
NM_000441.2:c.537_538delinsC MANE Select	NP_000432.1:p.Ala180LeufsTer8