Canonical Allele Identifier: CA915945407

Gene: SLC26A4 SLC26A4-AS1

Linked Data

• ClinVar Variation Id: 644957
• ClinVar RCV Id: RCV000798961 ; RCV003472359
• dbSNP Id: rs1584292992

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661771delinsTTG , CM000669.2:g.107661771delinsTTG	GRCh38
NC_000007.13:g.107302216delinsTTG , CM000669.1:g.107302216delinsTTG	GRCh37
NC_000007.12:g.107089452delinsTTG	NCBI36
NG_008489.1:g.6137delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.130delinsTTG (SLC26A4) MANE Select	ENSP00000494017.1:p.Lys44LeufsTer23
ENST00000265715.7:c.130delinsTTG (SLC26A4)	ENSP00000265715.3:p.Lys44LeufsTer23
ENST00000440056.1:c.130delinsTTG (SLC26A4)	ENSP00000394760.1:p.Lys44LeufsTer23
NM_000441.1:c.130delinsTTG (SLC26A4)	NP_000432.1:p.Lys44LeufsTer23
NR_028137.1:n.28delinsCAA (SLC26A4-AS1)
XM_005250425.1:c.130delinsTTG (SLC26A4)	XP_005250482.1:p.Lys44LeufsTer23
XM_006716025.2:c.130delinsTTG (SLC26A4)	XP_006716088.1:p.Lys44LeufsTer23
XM_005250425.2:c.130delinsTTG (SLC26A4)	XP_005250482.1:p.Lys44LeufsTer23
XM_006716025.3:c.130delinsTTG (SLC26A4)	XP_006716088.1:p.Lys44LeufsTer23
XM_017012318.1:c.130delinsTTG (SLC26A4)	XP_016867807.1:p.Lys44LeufsTer23
NM_000441.2:c.130delinsTTG (SLC26A4) MANE Select	NP_000432.1:p.Lys44LeufsTer23