Canonical Allele Identifier: CA2695213258

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387936_17387937delinsAA , CM000673.2:g.17387936_17387937delinsAA	GRCh38
NC_000011.9:g.17409483_17409484delinsAA , CM000673.1:g.17409483_17409484delinsAA	GRCh37
NC_000011.8:g.17366059_17366060delinsAA	NCBI36
NG_012446.1:g.5723_5724delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-74_-73delinsTT	ENSP00000436479.2:n.-74_-73delinsTT
ENST00000682350.1:c.-16-91_-16-90delinsTT	ENSP00000508090.1:n.-16-91_-16-90delinsTT
ENST00000682764.1:c.-16-91_-16-90delinsTT	ENSP00000506780.1:n.-16-91_-16-90delinsTT
ENST00000339994.5:c.155_156delinsTT MANE Select	ENSP00000345708.4:p.Gln52Leu
ENST00000339994.4:c.155_156delinsTT	ENSP00000345708.4:p.Gln52Leu
ENST00000526912.1:c.-17+81_-17+82delinsTT	ENSP00000432729.1:n.-17+81_-17+82delinsTT
ENST00000528731.1:c.-16-91_-16-90delinsTT	ENSP00000434755.1:n.-16-91_-16-90delinsTT
ENST00000528992.1:c.172_173delinsTT
NM_000525.3:c.155_156delinsTT	NP_000516.3:p.Gln52Leu
NM_001166290.1:c.-16-91_-16-90delinsTT	NP_001159762.1:n.-16-91_-16-90delinsTT
XM_006718226.2:c.-16-91_-16-90delinsTT	XP_006718289.1:n.-16-91_-16-90delinsTT
XR_930867.1:n.313_314delinsTT
XM_006718226.3:c.-16-91_-16-90delinsTT	XP_006718289.1:n.-16-91_-16-90delinsTT
XM_017017680.1:c.-16-91_-16-90delinsTT	XP_016873169.1:n.-16-91_-16-90delinsTT
NM_001166290.2:c.-16-91_-16-90delinsTT	NP_001159762.1:n.-16-91_-16-90delinsTT
NM_001377296.1:c.-17+81_-17+82delinsTT	NP_001364225.1:n.-17+81_-17+82delinsTT
NM_001377297.1:c.-16-91_-16-90delinsTT	NP_001364226.1:n.-16-91_-16-90delinsTT
NM_000525.4:c.155_156delinsTT MANE Select	NP_000516.3:p.Gln52Leu