Canonical Allele Identifier: CA2695213256

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387925_17387926delinsCC , CM000673.2:g.17387925_17387926delinsCC	GRCh38
NC_000011.9:g.17409472_17409473delinsCC , CM000673.1:g.17409472_17409473delinsCC	GRCh37
NC_000011.8:g.17366048_17366049delinsCC	NCBI36
NG_012446.1:g.5734_5735delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-63_-62delinsGG	ENSP00000436479.2:n.-63_-62delinsGG
ENST00000682350.1:c.-16-80_-16-79delinsGG	ENSP00000508090.1:n.-16-80_-16-79delinsGG
ENST00000682764.1:c.-16-80_-16-79delinsGG	ENSP00000506780.1:n.-16-80_-16-79delinsGG
ENST00000339994.5:c.166_167delinsGG MANE Select	ENSP00000345708.4:p.Leu56Gly
ENST00000339994.4:c.166_167delinsGG	ENSP00000345708.4:p.Leu56Gly
ENST00000526912.1:c.-16-80_-16-79delinsGG	ENSP00000432729.1:n.-16-80_-16-79delinsGG
ENST00000528731.1:c.-16-80_-16-79delinsGG	ENSP00000434755.1:n.-16-80_-16-79delinsGG
ENST00000528992.1:c.183_184delinsGG
NM_000525.3:c.166_167delinsGG	NP_000516.3:p.Leu56Gly
NM_001166290.1:c.-16-80_-16-79delinsGG	NP_001159762.1:n.-16-80_-16-79delinsGG
XM_006718226.2:c.-16-80_-16-79delinsGG	XP_006718289.1:n.-16-80_-16-79delinsGG
XR_930867.1:n.324_325delinsGG
XM_006718226.3:c.-16-80_-16-79delinsGG	XP_006718289.1:n.-16-80_-16-79delinsGG
XM_017017680.1:c.-16-80_-16-79delinsGG	XP_016873169.1:n.-16-80_-16-79delinsGG
NM_001166290.2:c.-16-80_-16-79delinsGG	NP_001159762.1:n.-16-80_-16-79delinsGG
NM_001377296.1:c.-16-80_-16-79delinsGG	NP_001364225.1:n.-16-80_-16-79delinsGG
NM_001377297.1:c.-16-80_-16-79delinsGG	NP_001364226.1:n.-16-80_-16-79delinsGG
NM_000525.4:c.166_167delinsGG MANE Select	NP_000516.3:p.Leu56Gly