Canonical Allele Identifier: CA3003288110

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386842_17386843insGCTCAGCCTCC , CM000673.2:g.17386842_17386843insGCTCAGCCTCC	GRCh38
NC_000011.9:g.17408389_17408390insGCTCAGCCTCC , CM000673.1:g.17408389_17408390insGCTCAGCCTCC	GRCh37
NC_000011.8:g.17364965_17364966insGCTCAGCCTCC	NCBI36
NG_012446.1:g.6817_6818insGGAGGCTGAGC

Transcript Alleles

HGVS	Amino-acid Change
NM_000525.4:c.*76_*77insGGAGGCTGAGC MANE Select	NP_000516.3:n.*76_*77insGGAGGCTGAGC
ENST00000339994.5:c.*76_*77insGGAGGCTGAGC MANE Select	ENSP00000345708.4:n.*76_*77insGGAGGCTGAGC
NM_000525.3:c.*76_*77insGGAGGCTGAGC	NP_000516.3:n.*76_*77insGGAGGCTGAGC
NM_001166290.1:c.*76_*77insGGAGGCTGAGC	NP_001159762.1:n.*76_*77insGGAGGCTGAGC
NM_001166290.2:c.*76_*77insGGAGGCTGAGC	NP_001159762.1:n.*76_*77insGGAGGCTGAGC
NM_001377296.1:c.*76_*77insGGAGGCTGAGC	NP_001364225.1:n.*76_*77insGGAGGCTGAGC
NM_001377297.1:c.*76_*77insGGAGGCTGAGC	NP_001364226.1:n.*76_*77insGGAGGCTGAGC
ENST00000339994.4:c.*76_*77insGGAGGCTGAGC	ENSP00000345708.4:n.*76_*77insGGAGGCTGAGC
ENST00000528731.1:c.*76_*77insGGAGGCTGAGC	ENSP00000434755.1:n.*76_*77insGGAGGCTGAGC
ENST00000682350.1:c.*76_*77insGGAGGCTGAGC	ENSP00000508090.1:n.*76_*77insGGAGGCTGAGC
ENST00000682764.1:c.*50+26_*50+27insGGAGGCTGAGC	ENSP00000506780.1:n.*50+26_*50+27insGGAGGCTGAGC
XM_006718226.2:c.*76_*77insGGAGGCTGAGC	XP_006718289.1:n.*76_*77insGGAGGCTGAGC
XM_006718226.3:c.*76_*77insGGAGGCTGAGC	XP_006718289.1:n.*76_*77insGGAGGCTGAGC
XM_017017680.1:c.*76_*77insGGAGGCTGAGC	XP_016873169.1:n.*76_*77insGGAGGCTGAGC
XR_930867.1:n.1381+26_1381+27insGGAGGCTGAGC