Canonical Allele Identifier: CA2739278745

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2866021
• ClinVar RCV Id: RCV003704992

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696031_107696035delinsTCCACAACTCACTG , CM000669.2:g.107696031_107696035delinsTCCACAACTCACTG	GRCh38
NC_000007.13:g.107336476_107336480delinsTCCACAACTCACTG , CM000669.1:g.107336476_107336480delinsTCCACAACTCACTG	GRCh37
NC_000007.12:g.107123712_107123716delinsTCCACAACTCACTG	NCBI36
NG_008489.1:g.40397_40401delinsTCCACAACTCACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1536_1540delinsTCCACAACTCACTG MANE Select	ENSP00000494017.1:p.Arg512_Gln514delinsSerProGlnLeuThrGlu
ENST00000644846.1:c.247_251delinsTCCACAACTCACTG
ENST00000265715.7:c.1536_1540delinsTCCACAACTCACTG	ENSP00000265715.3:p.Arg512_Gln514delinsSerProGlnLeuThrGlu
ENST00000477350.5:n.383_387delinsTCCACAACTCACTG
ENST00000480841.5:n.385_389delinsTCCACAACTCACTG
ENST00000497446.5:n.551_555delinsTCCACAACTCACTG
NM_000441.1:c.1536_1540delinsTCCACAACTCACTG	NP_000432.1:p.Arg512_Gln514delinsSerProGlnLeuThrGlu
XM_005250425.1:c.1536_1540delinsTCCACAACTCACTG	XP_005250482.1:p.Arg512_Gln514delinsSerProGlnLeuThrGlu
XM_005250425.2:c.1536_1540delinsTCCACAACTCACTG	XP_005250482.1:p.Arg512_Gln514delinsSerProGlnLeuThrGlu
XM_017012318.1:c.1458_1462delinsTCCACAACTCACTG	XP_016867807.1:p.Arg486_Gln488delinsSerProGlnLeuThrGlu
NM_000441.2:c.1536_1540delinsTCCACAACTCACTG MANE Select	NP_000432.1:p.Arg512_Gln514delinsSerProGlnLeuThrGlu