Canonical Allele Identifier: CA2695213383

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387102_17387103delinsAG , CM000673.2:g.17387102_17387103delinsAG	GRCh38
NC_000011.9:g.17408649_17408650delinsAG , CM000673.1:g.17408649_17408650delinsAG	GRCh37
NC_000011.8:g.17365225_17365226delinsAG	NCBI36
NG_012446.1:g.6557_6558delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.728_729delinsCT	ENSP00000508090.1:p.Tyr243Ser
ENST00000682764.1:c.728_729delinsCT	ENSP00000506780.1:p.Tyr243Ser
ENST00000339994.5:c.989_990delinsCT MANE Select	ENSP00000345708.4:p.Tyr330Ser
ENST00000339994.4:c.989_990delinsCT	ENSP00000345708.4:p.Tyr330Ser
ENST00000528731.1:c.728_729delinsCT	ENSP00000434755.1:p.Tyr243Ser
NM_000525.3:c.989_990delinsCT	NP_000516.3:p.Tyr330Ser
NM_001166290.1:c.728_729delinsCT	NP_001159762.1:p.Tyr243Ser
XM_006718226.2:c.728_729delinsCT	XP_006718289.1:p.Tyr243Ser
XR_930867.1:n.1147_1148delinsCT
XM_006718226.3:c.728_729delinsCT	XP_006718289.1:p.Tyr243Ser
XM_017017680.1:c.728_729delinsCT	XP_016873169.1:p.Tyr243Ser
NM_001166290.2:c.728_729delinsCT	NP_001159762.1:p.Tyr243Ser
NM_001377296.1:c.728_729delinsCT	NP_001364225.1:p.Tyr243Ser
NM_001377297.1:c.728_729delinsCT	NP_001364226.1:p.Tyr243Ser
NM_000525.4:c.989_990delinsCT MANE Select	NP_000516.3:p.Tyr330Ser