Canonical Allele Identifier: CA2612638755

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387413-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387417del , CM000673.2:g.17387417del	GRCh38
NC_000011.9:g.17408964del , CM000673.1:g.17408964del	GRCh37
NC_000011.8:g.17365540del	NCBI36
NG_012446.1:g.6246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.417del	ENSP00000508090.1:p.Glu140ArgfsTer29
ENST00000682764.1:c.417del	ENSP00000506780.1:p.Glu140ArgfsTer29
ENST00000339994.5:c.678del MANE Select	ENSP00000345708.4:p.Glu227ArgfsTer29
ENST00000339994.4:c.678del	ENSP00000345708.4:p.Glu227ArgfsTer29
ENST00000526912.1:c.417del	ENSP00000432729.1:p.Glu140ArgfsTer?
ENST00000528731.1:c.417del	ENSP00000434755.1:p.Glu140ArgfsTer29
NM_000525.3:c.678del	NP_000516.3:p.Glu227ArgfsTer29
NM_001166290.1:c.417del	NP_001159762.1:p.Glu140ArgfsTer29
XM_006718226.2:c.417del	XP_006718289.1:p.Glu140ArgfsTer29
XR_930867.1:n.836del
XM_006718226.3:c.417del	XP_006718289.1:p.Glu140ArgfsTer29
XM_017017680.1:c.417del	XP_016873169.1:p.Glu140ArgfsTer29
NM_001166290.2:c.417del	NP_001159762.1:p.Glu140ArgfsTer29
NM_001377296.1:c.417del	NP_001364225.1:p.Glu140ArgfsTer29
NM_001377297.1:c.417del	NP_001364226.1:p.Glu140ArgfsTer29
NM_000525.4:c.678del MANE Select	NP_000516.3:p.Glu227ArgfsTer29