Canonical Allele Identifier: CA1955118977
Community Standard Title: NM_000525.4(KCNJ11):c.*63_*81del
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386839_17386857del , CM000673.2:g.17386839_17386857del GRCh38
NC_000011.9:g.17408386_17408404del , CM000673.1:g.17408386_17408404del GRCh37
NC_000011.8:g.17364962_17364980del NCBI36
NG_012446.1:g.6804_6822del

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.*63_*81del MANE Select NP_000516.3:n.*63_*81del
ENST00000339994.5:c.*63_*81del MANE Select ENSP00000345708.4:n.*63_*81del
NM_000525.3:c.*63_*81del NP_000516.3:n.*63_*81del
NM_001166290.1:c.*63_*81del NP_001159762.1:n.*63_*81del
NM_001166290.2:c.*63_*81del NP_001159762.1:n.*63_*81del
NM_001377296.1:c.*63_*81del NP_001364225.1:n.*63_*81del
NM_001377297.1:c.*63_*81del NP_001364226.1:n.*63_*81del
ENST00000339994.4:c.*63_*81del ENSP00000345708.4:n.*63_*81del
ENST00000528731.1:c.*63_*81del ENSP00000434755.1:n.*63_*81del
ENST00000682350.1:c.*63_*81del ENSP00000508090.1:n.*63_*81del
ENST00000682764.1:c.*50+13_*50+31del ENSP00000506780.1:n.*50+13_*50+31del
XM_006718226.2:c.*63_*81del XP_006718289.1:n.*63_*81del
XM_006718226.3:c.*63_*81del XP_006718289.1:n.*63_*81del
XM_017017680.1:c.*63_*81del XP_016873169.1:n.*63_*81del
XR_930867.1:n.1381+13_1381+31del