Canonical Allele Identifier: CA3003288907

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387402del , CM000673.2:g.17387402del	GRCh38
NC_000011.9:g.17408949del , CM000673.1:g.17408949del	GRCh37
NC_000011.8:g.17365525del	NCBI36
NG_012446.1:g.6259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.430del	ENSP00000508090.1:p.Val144CysfsTer25
ENST00000682764.1:c.430del	ENSP00000506780.1:p.Val144CysfsTer25
ENST00000339994.5:c.691del MANE Select	ENSP00000345708.4:p.Val231CysfsTer25
ENST00000339994.4:c.691del	ENSP00000345708.4:p.Val231CysfsTer25
ENST00000526912.1:c.430del	ENSP00000432729.1:p.Val144CysfsTer?
ENST00000528731.1:c.430del	ENSP00000434755.1:p.Val144CysfsTer25
NM_000525.3:c.691del	NP_000516.3:p.Val231CysfsTer25
NM_001166290.1:c.430del	NP_001159762.1:p.Val144CysfsTer25
XM_006718226.2:c.430del	XP_006718289.1:p.Val144CysfsTer25
XR_930867.1:n.849del
XM_006718226.3:c.430del	XP_006718289.1:p.Val144CysfsTer25
XM_017017680.1:c.430del	XP_016873169.1:p.Val144CysfsTer25
NM_001166290.2:c.430del	NP_001159762.1:p.Val144CysfsTer25
NM_001377296.1:c.430del	NP_001364225.1:p.Val144CysfsTer25
NM_001377297.1:c.430del	NP_001364226.1:p.Val144CysfsTer25
NM_000525.4:c.691del MANE Select	NP_000516.3:p.Val231CysfsTer25