Canonical Allele Identifier: CA2526879711

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388042del , CM000673.2:g.17388042del	GRCh38
NC_000011.9:g.17409589del , CM000673.1:g.17409589del	GRCh37
NC_000011.8:g.17366165del	NCBI36
NG_012446.1:g.5618del

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-179del	ENSP00000436479.2:n.-179del
ENST00000682350.1:c.-16-196del	ENSP00000508090.1:n.-16-196del
ENST00000682764.1:c.-16-196del	ENSP00000506780.1:n.-16-196del
ENST00000339994.5:c.50del MANE Select	ENSP00000345708.4:p.Leu17ArgfsTer?
ENST00000339994.4:c.50del	ENSP00000345708.4:p.Leu17ArgfsTer?
ENST00000526912.1:c.-41del	ENSP00000432729.1:n.-41del
ENST00000528731.1:c.-16-196del	ENSP00000434755.1:n.-16-196del
ENST00000528992.1:c.67del
NM_000525.3:c.50del	NP_000516.3:p.Leu17ArgfsTer?
NM_001166290.1:c.-16-196del	NP_001159762.1:n.-16-196del
XM_006718226.2:c.-16-196del	XP_006718289.1:n.-16-196del
XR_930867.1:n.208del
XM_006718226.3:c.-16-196del	XP_006718289.1:n.-16-196del
XM_017017680.1:c.-16-196del	XP_016873169.1:n.-16-196del
NM_001166290.2:c.-16-196del	NP_001159762.1:n.-16-196del
NM_001377296.1:c.-41del	NP_001364225.1:n.-41del
NM_001377297.1:c.-16-196del	NP_001364226.1:n.-16-196del
NM_000525.4:c.50del MANE Select	NP_000516.3:p.Leu17ArgfsTer?