Canonical Allele Identifier: CA2612639744

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17388028-C-CAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388029_17388032dup , CM000673.2:g.17388029_17388032dup	GRCh38
NC_000011.9:g.17409576_17409579dup , CM000673.1:g.17409576_17409579dup	GRCh37
NC_000011.8:g.17366152_17366155dup	NCBI36
NG_012446.1:g.5628_5631dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-169_-166dup	ENSP00000436479.2:n.-169_-166dup
ENST00000682350.1:c.-16-186_-16-183dup	ENSP00000508090.1:n.-16-186_-16-183dup
ENST00000682764.1:c.-16-186_-16-183dup	ENSP00000506780.1:n.-16-186_-16-183dup
ENST00000339994.5:c.60_63dup MANE Select	ENSP00000345708.4:p.Ala22ProfsTer?
ENST00000339994.4:c.60_63dup	ENSP00000345708.4:p.Ala22ProfsTer?
ENST00000526912.1:c.-31_-28dup	ENSP00000432729.1:n.-31_-28dup
ENST00000528731.1:c.-16-186_-16-183dup	ENSP00000434755.1:n.-16-186_-16-183dup
ENST00000528992.1:c.77_80dup
NM_000525.3:c.60_63dup	NP_000516.3:p.Ala22ProfsTer?
NM_001166290.1:c.-16-186_-16-183dup	NP_001159762.1:n.-16-186_-16-183dup
XM_006718226.2:c.-16-186_-16-183dup	XP_006718289.1:n.-16-186_-16-183dup
XR_930867.1:n.218_221dup
XM_006718226.3:c.-16-186_-16-183dup	XP_006718289.1:n.-16-186_-16-183dup
XM_017017680.1:c.-16-186_-16-183dup	XP_016873169.1:n.-16-186_-16-183dup
NM_001166290.2:c.-16-186_-16-183dup	NP_001159762.1:n.-16-186_-16-183dup
NM_001377296.1:c.-31_-28dup	NP_001364225.1:n.-31_-28dup
NM_001377297.1:c.-16-186_-16-183dup	NP_001364226.1:n.-16-186_-16-183dup
NM_000525.4:c.60_63dup MANE Select	NP_000516.3:p.Ala22ProfsTer?