Canonical Allele Identifier: CA2831039173

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387727del , CM000673.2:g.17387727del	GRCh38
NC_000011.9:g.17409274del , CM000673.1:g.17409274del	GRCh37
NC_000011.8:g.17365850del	NCBI36
NG_012446.1:g.5936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.140del	ENSP00000436479.2:p.Phe47SerfsTer7
ENST00000682350.1:c.107del	ENSP00000508090.1:p.Phe36SerfsTer7
ENST00000682764.1:c.107del	ENSP00000506780.1:p.Phe36SerfsTer7
ENST00000339994.5:c.368del MANE Select	ENSP00000345708.4:p.Phe123SerfsTer7
ENST00000339994.4:c.368del	ENSP00000345708.4:p.Phe123SerfsTer7
ENST00000526912.1:c.107del	ENSP00000432729.1:p.Phe36SerfsTer7
ENST00000528731.1:c.107del	ENSP00000434755.1:p.Phe36SerfsTer7
ENST00000528992.1:c.385del
NM_000525.3:c.368del	NP_000516.3:p.Phe123SerfsTer7
NM_001166290.1:c.107del	NP_001159762.1:p.Phe36SerfsTer7
XM_006718226.2:c.107del	XP_006718289.1:p.Phe36SerfsTer7
XR_930867.1:n.526del
XM_006718226.3:c.107del	XP_006718289.1:p.Phe36SerfsTer7
XM_017017680.1:c.107del	XP_016873169.1:p.Phe36SerfsTer7
NM_001166290.2:c.107del	NP_001159762.1:p.Phe36SerfsTer7
NM_001377296.1:c.107del	NP_001364225.1:p.Phe36SerfsTer7
NM_001377297.1:c.107del	NP_001364226.1:p.Phe36SerfsTer7
NM_000525.4:c.368del MANE Select	NP_000516.3:p.Phe123SerfsTer7