Canonical Allele Identifier: CA2612638170

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17386868-CCACATGGTCCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386869_17386880del , CM000673.2:g.17386869_17386880del	GRCh38
NC_000011.9:g.17408416_17408427del , CM000673.1:g.17408416_17408427del	GRCh37
NC_000011.8:g.17364992_17365003del	NCBI36
NG_012446.1:g.6780_6791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*39_*50del	ENSP00000508090.1:n.*39_*50del
ENST00000682764.1:c.*39_*50del	ENSP00000506780.1:n.*39_*50del
ENST00000339994.5:c.*39_*50del MANE Select	ENSP00000345708.4:n.*39_*50del
ENST00000339994.4:c.*39_*50del	ENSP00000345708.4:n.*39_*50del
ENST00000528731.1:c.*39_*50del	ENSP00000434755.1:n.*39_*50del
NM_000525.3:c.*39_*50del	NP_000516.3:n.*39_*50del
NM_001166290.1:c.*39_*50del	NP_001159762.1:n.*39_*50del
XM_006718226.2:c.*39_*50del	XP_006718289.1:n.*39_*50del
XR_930867.1:n.1370_1381del
XM_006718226.3:c.*39_*50del	XP_006718289.1:n.*39_*50del
XM_017017680.1:c.*39_*50del	XP_016873169.1:n.*39_*50del
NM_001166290.2:c.*39_*50del	NP_001159762.1:n.*39_*50del
NM_001377296.1:c.*39_*50del	NP_001364225.1:n.*39_*50del
NM_001377297.1:c.*39_*50del	NP_001364226.1:n.*39_*50del
NM_000525.4:c.*39_*50del MANE Select	NP_000516.3:n.*39_*50del