Canonical Allele Identifier: CA2695198373

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2678930
• ClinVar RCV Id: RCV003472906

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690190_107690192delinsC , CM000669.2:g.107690190_107690192delinsC	GRCh38
NC_000007.13:g.107330635_107330637delinsC , CM000669.1:g.107330635_107330637delinsC	GRCh37
NC_000007.12:g.107117871_107117873delinsC	NCBI36
NG_008489.1:g.34556_34558delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1216_1218delinsC MANE Select	ENSP00000494017.1:p.Ala406ProfsTer?
ENST00000265715.7:c.1216_1218delinsC	ENSP00000265715.3:p.Ala406ProfsTer?
NM_000441.1:c.1216_1218delinsC	NP_000432.1:p.Ala406ProfsTer?
XM_005250425.1:c.1216_1218delinsC	XP_005250482.1:p.Ala406ProfsTer?
XM_006716025.2:c.1216_1218delinsC	XP_006716088.1:p.Ala406ProfsTer?
XM_005250425.2:c.1216_1218delinsC	XP_005250482.1:p.Ala406ProfsTer?
XM_006716025.3:c.1216_1218delinsC	XP_006716088.1:p.Ala406ProfsTer?
XM_017012318.1:c.1216_1218delinsC	XP_016867807.1:p.Ala406ProfsTer?
NM_000441.2:c.1216_1218delinsC MANE Select	NP_000432.1:p.Ala406ProfsTer?