Canonical Allele Identifier: CA2612638664

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2676207
• ClinVar RCV Id: RCV003461771
• gnomAD v4: 11-17387262-TGGTGCAGGTCGCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387268_17387281del , CM000673.2:g.17387268_17387281del	GRCh38
NC_000011.9:g.17408815_17408828del , CM000673.1:g.17408815_17408828del	GRCh37
NC_000011.8:g.17365391_17365404del	NCBI36
NG_012446.1:g.6384_6397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.555_568del	ENSP00000508090.1:p.Ser186ProfsTer?
ENST00000682764.1:c.555_568del	ENSP00000506780.1:p.Ser186ProfsTer?
ENST00000339994.5:c.816_829del MANE Select	ENSP00000345708.4:p.Ser273ProfsTer?
ENST00000339994.4:c.816_829del	ENSP00000345708.4:p.Ser273ProfsTer?
ENST00000528731.1:c.555_568del	ENSP00000434755.1:p.Ser186ProfsTer?
NM_000525.3:c.816_829del	NP_000516.3:p.Ser273ProfsTer?
NM_001166290.1:c.555_568del	NP_001159762.1:p.Ser186ProfsTer?
XM_006718226.2:c.555_568del	XP_006718289.1:p.Ser186ProfsTer?
XR_930867.1:n.974_987del
XM_006718226.3:c.555_568del	XP_006718289.1:p.Ser186ProfsTer?
XM_017017680.1:c.555_568del	XP_016873169.1:p.Ser186ProfsTer?
NM_001166290.2:c.555_568del	NP_001159762.1:p.Ser186ProfsTer?
NM_001377296.1:c.555_568del	NP_001364225.1:p.Ser186ProfsTer?
NM_001377297.1:c.555_568del	NP_001364226.1:p.Ser186ProfsTer?
NM_000525.4:c.816_829del MANE Select	NP_000516.3:p.Ser273ProfsTer?