Canonical Allele Identifier: CA2612640517

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17388244-C-CCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388246_17388249dup , CM000673.2:g.17388246_17388249dup	GRCh38
NC_000011.9:g.17409793_17409796dup , CM000673.1:g.17409793_17409796dup	GRCh37
NC_000011.8:g.17366369_17366372dup	NCBI36
NG_012446.1:g.5412_5415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-213-172_-213-169dup	ENSP00000436479.2:n.-213-172_-213-169dup
ENST00000682350.1:c.-16-402_-16-399dup	ENSP00000508090.1:n.-16-402_-16-399dup
ENST00000682764.1:c.-16-402_-16-399dup	ENSP00000506780.1:n.-16-402_-16-399dup
ENST00000339994.5:c.-157_-154dup MANE Select	ENSP00000345708.4:n.-157_-154dup
ENST00000339994.4:c.-157_-154dup	ENSP00000345708.4:n.-157_-154dup
ENST00000526912.1:c.-75-172_-75-169dup	ENSP00000432729.1:n.-75-172_-75-169dup
ENST00000528731.1:c.-16-402_-16-399dup	ENSP00000434755.1:n.-16-402_-16-399dup
ENST00000528992.1:c.33-172_33-169dup
NM_000525.3:c.-157_-154dup	NP_000516.3:n.-157_-154dup
NM_001166290.1:c.-16-402_-16-399dup	NP_001159762.1:n.-16-402_-16-399dup
XM_006718226.2:c.-16-402_-16-399dup	XP_006718289.1:n.-16-402_-16-399dup
XR_930867.1:n.2_5dup
XM_006718226.3:c.-16-402_-16-399dup	XP_006718289.1:n.-16-402_-16-399dup
XM_017017680.1:c.-16-402_-16-399dup	XP_016873169.1:n.-16-402_-16-399dup
NM_001166290.2:c.-16-402_-16-399dup	NP_001159762.1:n.-16-402_-16-399dup
NM_001377296.1:c.-75-172_-75-169dup	NP_001364225.1:n.-75-172_-75-169dup
NM_001377297.1:c.-16-402_-16-399dup	NP_001364226.1:n.-16-402_-16-399dup
NM_000525.4:c.-157_-154dup MANE Select	NP_000516.3:n.-157_-154dup