Canonical Allele Identifier: CA3003288133
Community Standard Title: NM_000525.4(KCNJ11):c.*65_*66insTCACACC
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386855_17386856insTGTGAGG , CM000673.2:g.17386855_17386856insTGTGAGG GRCh38
NC_000011.9:g.17408402_17408403insTGTGAGG , CM000673.1:g.17408402_17408403insTGTGAGG GRCh37
NC_000011.8:g.17364978_17364979insTGTGAGG NCBI36
NG_012446.1:g.6806_6807insTCACACC

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.*65_*66insTCACACC MANE Select NP_000516.3:n.*65_*66insTCACACC
ENST00000339994.5:c.*65_*66insTCACACC MANE Select ENSP00000345708.4:n.*65_*66insTCACACC
NM_000525.3:c.*65_*66insTCACACC NP_000516.3:n.*65_*66insTCACACC
NM_001166290.1:c.*65_*66insTCACACC NP_001159762.1:n.*65_*66insTCACACC
NM_001166290.2:c.*65_*66insTCACACC NP_001159762.1:n.*65_*66insTCACACC
NM_001377296.1:c.*65_*66insTCACACC NP_001364225.1:n.*65_*66insTCACACC
NM_001377297.1:c.*65_*66insTCACACC NP_001364226.1:n.*65_*66insTCACACC
ENST00000339994.4:c.*65_*66insTCACACC ENSP00000345708.4:n.*65_*66insTCACACC
ENST00000528731.1:c.*65_*66insTCACACC ENSP00000434755.1:n.*65_*66insTCACACC
ENST00000682350.1:c.*65_*66insTCACACC ENSP00000508090.1:n.*65_*66insTCACACC
ENST00000682764.1:c.*50+15_*50+16insTCACACC ENSP00000506780.1:n.*50+15_*50+16insTCACACC
XM_006718226.2:c.*65_*66insTCACACC XP_006718289.1:n.*65_*66insTCACACC
XM_006718226.3:c.*65_*66insTCACACC XP_006718289.1:n.*65_*66insTCACACC
XM_017017680.1:c.*65_*66insTCACACC XP_016873169.1:n.*65_*66insTCACACC
XR_930867.1:n.1381+15_1381+16insTCACACC