Canonical Allele Identifier: CA2522552933

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695990_107695991insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC , CM000669.2:g.107695990_107695991insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC	GRCh38
NC_000007.13:g.107336435_107336436insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC , CM000669.1:g.107336435_107336436insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC	GRCh37
NC_000007.12:g.107123671_107123672insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC	NCBI36
NG_008489.1:g.40356_40357insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1495_1496insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC MANE Select	ENSP00000494017.1:p.Leu499ArgfsTer6
ENST00000644846.1:c.206_207insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC
ENST00000265715.7:c.1495_1496insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC	ENSP00000265715.3:p.Leu499ArgfsTer6
ENST00000477350.5:n.342_343insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC
ENST00000480841.5:n.344_345insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC
ENST00000497446.5:n.510_511insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC
NM_000441.1:c.1495_1496insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC	NP_000432.1:p.Leu499ArgfsTer6
XM_005250425.1:c.1495_1496insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC	XP_005250482.1:p.Leu499ArgfsTer6
XM_005250425.2:c.1495_1496insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC	XP_005250482.1:p.Leu499ArgfsTer6
XM_017012318.1:c.1417_1418insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC	XP_016867807.1:p.Leu473ArgfsTer6
NM_000441.2:c.1495_1496insGGCGTTTCGGCCGTTGAGATGAGCCGCACGCTCCGCCGCTATCTTCAGAACCCGACGGCGTTGTTTCGTCGTGTACGCGATGAGCACGGCATCCTGCACCTTTCGCAACGCGCGGCGGCC MANE Select	NP_000432.1:p.Leu499ArgfsTer6