Canonical Allele Identifier: CA2612639102

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387698-C-CAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387699_17387702dup , CM000673.2:g.17387699_17387702dup	GRCh38
NC_000011.9:g.17409246_17409249dup , CM000673.1:g.17409246_17409249dup	GRCh37
NC_000011.8:g.17365822_17365825dup	NCBI36
NG_012446.1:g.5958_5961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.162_165dup	ENSP00000436479.2:p.Gly56TyrfsTer10
ENST00000682350.1:c.129_132dup	ENSP00000508090.1:p.Gly45TyrfsTer10
ENST00000682764.1:c.129_132dup	ENSP00000506780.1:p.Gly45TyrfsTer10
ENST00000339994.5:c.390_393dup MANE Select	ENSP00000345708.4:p.Gly132TyrfsTer10
ENST00000339994.4:c.390_393dup	ENSP00000345708.4:p.Gly132TyrfsTer10
ENST00000526912.1:c.129_132dup	ENSP00000432729.1:p.Gly45TyrfsTer10
ENST00000528731.1:c.129_132dup	ENSP00000434755.1:p.Gly45TyrfsTer10
ENST00000528992.1:c.407_410dup
NM_000525.3:c.390_393dup	NP_000516.3:p.Gly132TyrfsTer10
NM_001166290.1:c.129_132dup	NP_001159762.1:p.Gly45TyrfsTer10
XM_006718226.2:c.129_132dup	XP_006718289.1:p.Gly45TyrfsTer10
XR_930867.1:n.548_551dup
XM_006718226.3:c.129_132dup	XP_006718289.1:p.Gly45TyrfsTer10
XM_017017680.1:c.129_132dup	XP_016873169.1:p.Gly45TyrfsTer10
NM_001166290.2:c.129_132dup	NP_001159762.1:p.Gly45TyrfsTer10
NM_001377296.1:c.129_132dup	NP_001364225.1:p.Gly45TyrfsTer10
NM_001377297.1:c.129_132dup	NP_001364226.1:p.Gly45TyrfsTer10
NM_000525.4:c.390_393dup MANE Select	NP_000516.3:p.Gly132TyrfsTer10