Canonical Allele Identifier: CA2612638732

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387385-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387387del , CM000673.2:g.17387387del	GRCh38
NC_000011.9:g.17408934del , CM000673.1:g.17408934del	GRCh37
NC_000011.8:g.17365510del	NCBI36
NG_012446.1:g.6274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.445del	ENSP00000508090.1:p.Val149TrpfsTer20
ENST00000682764.1:c.445del	ENSP00000506780.1:p.Val149TrpfsTer20
ENST00000339994.5:c.706del MANE Select	ENSP00000345708.4:p.Val236TrpfsTer20
ENST00000339994.4:c.706del	ENSP00000345708.4:p.Val236TrpfsTer20
ENST00000526912.1:c.445del	ENSP00000432729.1:p.Val149TrpfsTer?
ENST00000528731.1:c.445del	ENSP00000434755.1:p.Val149TrpfsTer20
NM_000525.3:c.706del	NP_000516.3:p.Val236TrpfsTer20
NM_001166290.1:c.445del	NP_001159762.1:p.Val149TrpfsTer20
XM_006718226.2:c.445del	XP_006718289.1:p.Val149TrpfsTer20
XR_930867.1:n.864del
XM_006718226.3:c.445del	XP_006718289.1:p.Val149TrpfsTer20
XM_017017680.1:c.445del	XP_016873169.1:p.Val149TrpfsTer20
NM_001166290.2:c.445del	NP_001159762.1:p.Val149TrpfsTer20
NM_001377296.1:c.445del	NP_001364225.1:p.Val149TrpfsTer20
NM_001377297.1:c.445del	NP_001364226.1:p.Val149TrpfsTer20
NM_000525.4:c.706del MANE Select	NP_000516.3:p.Val236TrpfsTer20