Canonical Allele Identifier: CA2838557897
Community Standard Title: NM_000525.4(KCNJ11):c.*61_*62del
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386857_17386858del , CM000673.2:g.17386857_17386858del GRCh38
NC_000011.9:g.17408404_17408405del , CM000673.1:g.17408404_17408405del GRCh37
NC_000011.8:g.17364980_17364981del NCBI36
NG_012446.1:g.6802_6803del

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.*61_*62del MANE Select NP_000516.3:n.*61_*62del
ENST00000339994.5:c.*61_*62del MANE Select ENSP00000345708.4:n.*61_*62del
NM_000525.3:c.*61_*62del NP_000516.3:n.*61_*62del
NM_001166290.1:c.*61_*62del NP_001159762.1:n.*61_*62del
NM_001166290.2:c.*61_*62del NP_001159762.1:n.*61_*62del
NM_001377296.1:c.*61_*62del NP_001364225.1:n.*61_*62del
NM_001377297.1:c.*61_*62del NP_001364226.1:n.*61_*62del
ENST00000339994.4:c.*61_*62del ENSP00000345708.4:n.*61_*62del
ENST00000528731.1:c.*61_*62del ENSP00000434755.1:n.*61_*62del
ENST00000682350.1:c.*61_*62del ENSP00000508090.1:n.*61_*62del
ENST00000682764.1:c.*50+11_*50+12del ENSP00000506780.1:n.*50+11_*50+12del
XM_006718226.2:c.*61_*62del XP_006718289.1:n.*61_*62del
XM_006718226.3:c.*61_*62del XP_006718289.1:n.*61_*62del
XM_017017680.1:c.*61_*62del XP_016873169.1:n.*61_*62del
XR_930867.1:n.1381+11_1381+12del