Canonical Allele Identifier: CA2612637633
Community Standard Title: NM_000525.4(KCNJ11):c.*190del
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386733del , CM000673.2:g.17386733del GRCh38
NC_000011.9:g.17408280del , CM000673.1:g.17408280del GRCh37
NC_000011.8:g.17364856del NCBI36
NG_012446.1:g.6931del

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.*190del MANE Select NP_000516.3:n.*190del
ENST00000339994.5:c.*190del MANE Select ENSP00000345708.4:n.*190del
NM_000525.3:c.*190del NP_000516.3:n.*190del
NM_001166290.1:c.*190del NP_001159762.1:n.*190del
NM_001166290.2:c.*190del NP_001159762.1:n.*190del
NM_001377296.1:c.*190del NP_001364225.1:n.*190del
NM_001377297.1:c.*190del NP_001364226.1:n.*190del
ENST00000339994.4:c.*190del ENSP00000345708.4:n.*190del
ENST00000526747.1:n.22del
ENST00000528731.1:c.*190del ENSP00000434755.1:n.*190del
ENST00000682350.1:c.*190del ENSP00000508090.1:n.*190del
ENST00000682764.1:c.*50+140del ENSP00000506780.1:n.*50+140del
XM_006718226.2:c.*190del XP_006718289.1:n.*190del
XM_006718226.3:c.*190del XP_006718289.1:n.*190del
XM_017017680.1:c.*190del XP_016873169.1:n.*190del
XR_930867.1:n.1381+140del