Canonical Allele Identifier: CA674172258

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1276779200
• MyVariant Identifiers: chr11:g.17408514_17408519del (hg19) ; chr11:g.17386967_17386972del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386969_17386974del , CM000673.2:g.17386969_17386974del	GRCh38
NC_000011.9:g.17408516_17408521del , CM000673.1:g.17408516_17408521del	GRCh37
NC_000011.8:g.17365092_17365097del	NCBI36
NG_012446.1:g.6688_6693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.859_864del	ENSP00000508090.1:p.Pro287_Met288del
ENST00000682764.1:c.859_864del	ENSP00000506780.1:p.Pro287_Met288del
ENST00000339994.5:c.1120_1125del MANE Select	ENSP00000345708.4:p.Pro374_Met375del
ENST00000339994.4:c.1120_1125del	ENSP00000345708.4:p.Pro374_Met375del
ENST00000528731.1:c.859_864del	ENSP00000434755.1:p.Pro287_Met288del
NM_000525.3:c.1120_1125del	NP_000516.3:p.Pro374_Met375del
NM_001166290.1:c.859_864del	NP_001159762.1:p.Pro287_Met288del
XM_006718226.2:c.859_864del	XP_006718289.1:p.Pro287_Met288del
XR_930867.1:n.1278_1283del
XM_006718226.3:c.859_864del	XP_006718289.1:p.Pro287_Met288del
XM_017017680.1:c.859_864del	XP_016873169.1:p.Pro287_Met288del
NM_001166290.2:c.859_864del	NP_001159762.1:p.Pro287_Met288del
NM_001377296.1:c.859_864del	NP_001364225.1:p.Pro287_Met288del
NM_001377297.1:c.859_864del	NP_001364226.1:p.Pro287_Met288del
NM_000525.4:c.1120_1125del MANE Select	NP_000516.3:p.Pro374_Met375del