Canonical Allele Identifier: CA1955119366

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387725_17387729delinsAAAGG , CM000673.2:g.17387725_17387729delinsAAAGG	GRCh38
NC_000011.9:g.17409272_17409276delinsAAAGG , CM000673.1:g.17409272_17409276delinsAAAGG	GRCh37
NC_000011.8:g.17365848_17365852delinsAAAGG	NCBI36
NG_012446.1:g.5931_5935delinsCCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.135_139delinsCCTTT	ENSP00000436479.2:p.Phe45=
ENST00000682350.1:c.102_106delinsCCTTT	ENSP00000508090.1:p.Phe34=
ENST00000682764.1:c.102_106delinsCCTTT	ENSP00000506780.1:p.Phe34=
ENST00000339994.5:c.363_367delinsCCTTT MANE Select	ENSP00000345708.4:p.Phe121=
ENST00000339994.4:c.363_367delinsCCTTT	ENSP00000345708.4:p.Phe121=
ENST00000526912.1:c.102_106delinsCCTTT	ENSP00000432729.1:p.Phe34=
ENST00000528731.1:c.102_106delinsCCTTT	ENSP00000434755.1:p.Phe34=
ENST00000528992.1:c.380_384delinsCCTTT
NM_000525.3:c.363_367delinsCCTTT	NP_000516.3:p.Phe121=
NM_001166290.1:c.102_106delinsCCTTT	NP_001159762.1:p.Phe34=
XM_006718226.2:c.102_106delinsCCTTT	XP_006718289.1:p.Phe34=
XR_930867.1:n.521_525delinsCCTTT
XM_006718226.3:c.102_106delinsCCTTT	XP_006718289.1:p.Phe34=
XM_017017680.1:c.102_106delinsCCTTT	XP_016873169.1:p.Phe34=
NM_001166290.2:c.102_106delinsCCTTT	NP_001159762.1:p.Phe34=
NM_001377296.1:c.102_106delinsCCTTT	NP_001364225.1:p.Phe34=
NM_001377297.1:c.102_106delinsCCTTT	NP_001364226.1:p.Phe34=
NM_000525.4:c.363_367delinsCCTTT MANE Select	NP_000516.3:p.Phe121=