Canonical Allele Identifier: CA2839582178

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387552_17387553insT , CM000673.2:g.17387552_17387553insT	GRCh38
NC_000011.9:g.17409099_17409100insT , CM000673.1:g.17409099_17409100insT	GRCh37
NC_000011.8:g.17365675_17365676insT	NCBI36
NG_012446.1:g.6107_6108insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.278_279insA	ENSP00000508090.1:p.Leu94ProfsTer24
ENST00000682764.1:c.278_279insA	ENSP00000506780.1:p.Leu94ProfsTer24
ENST00000339994.5:c.539_540insA MANE Select	ENSP00000345708.4:p.Leu181ProfsTer24
ENST00000339994.4:c.539_540insA	ENSP00000345708.4:p.Leu181ProfsTer24
ENST00000526912.1:c.278_279insA	ENSP00000432729.1:p.Leu94ProfsTer24
ENST00000528731.1:c.278_279insA	ENSP00000434755.1:p.Leu94ProfsTer24
NM_000525.3:c.539_540insA	NP_000516.3:p.Leu181ProfsTer24
NM_001166290.1:c.278_279insA	NP_001159762.1:p.Leu94ProfsTer24
XM_006718226.2:c.278_279insA	XP_006718289.1:p.Leu94ProfsTer24
XR_930867.1:n.697_698insA
XM_006718226.3:c.278_279insA	XP_006718289.1:p.Leu94ProfsTer24
XM_017017680.1:c.278_279insA	XP_016873169.1:p.Leu94ProfsTer24
NM_001166290.2:c.278_279insA	NP_001159762.1:p.Leu94ProfsTer24
NM_001377296.1:c.278_279insA	NP_001364225.1:p.Leu94ProfsTer24
NM_001377297.1:c.278_279insA	NP_001364226.1:p.Leu94ProfsTer24
NM_000525.4:c.539_540insA MANE Select	NP_000516.3:p.Leu181ProfsTer24