Canonical Allele Identifier: CA5902211

Gene: KCNJ11

Linked Data

• dbSNP Id: rs762921902
• ExAC: 11:17408670 G / GTCCCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATC
• MyVariant Identifiers: chr11:g.17408670_17408671insTCCCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATC (hg19) ; chr11:g.17387123_17387124insTCCCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387126_17387127insCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCC , CM000673.2:g.17387126_17387127insCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCC	GRCh38
NC_000011.9:g.17408673_17408674insCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCC , CM000673.1:g.17408673_17408674insCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCC	GRCh37
NC_000011.8:g.17365249_17365250insCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCC	NCBI36
NG_012446.1:g.6536_6537insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	ENSP00000508090.1:p.Asp236GlufsTer41
ENST00000682764.1:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	ENSP00000506780.1:p.Asp236GlufsTer41
ENST00000339994.5:c.968_969insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA MANE Select	ENSP00000345708.4:p.Asp323GlufsTer41
ENST00000339994.4:c.968_969insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	ENSP00000345708.4:p.Asp323GlufsTer41
ENST00000528731.1:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	ENSP00000434755.1:p.Asp236GlufsTer41
NM_000525.3:c.968_969insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	NP_000516.3:p.Asp323GlufsTer41
NM_001166290.1:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	NP_001159762.1:p.Asp236GlufsTer41
XM_006718226.2:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	XP_006718289.1:p.Asp236GlufsTer41
XR_930867.1:n.1126_1127insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA
XM_006718226.3:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	XP_006718289.1:p.Asp236GlufsTer41
XM_017017680.1:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	XP_016873169.1:p.Asp236GlufsTer41
NM_001166290.2:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	NP_001159762.1:p.Asp236GlufsTer41
NM_001377296.1:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	NP_001364225.1:p.Asp236GlufsTer41
NM_001377297.1:c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA	NP_001364226.1:p.Asp236GlufsTer41
NM_000525.4:c.968_969insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA MANE Select	NP_000516.3:p.Asp323GlufsTer41