Canonical Allele Identifier: CA2612638136
Community Standard Title: NM_000525.4(KCNJ11):c.*58del
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386861del , CM000673.2:g.17386861del GRCh38
NC_000011.9:g.17408408del , CM000673.1:g.17408408del GRCh37
NC_000011.8:g.17364984del NCBI36
NG_012446.1:g.6799del

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.*58del MANE Select NP_000516.3:n.*58del
ENST00000339994.5:c.*58del MANE Select ENSP00000345708.4:n.*58del
NM_000525.3:c.*58del NP_000516.3:n.*58del
NM_001166290.1:c.*58del NP_001159762.1:n.*58del
NM_001166290.2:c.*58del NP_001159762.1:n.*58del
NM_001377296.1:c.*58del NP_001364225.1:n.*58del
NM_001377297.1:c.*58del NP_001364226.1:n.*58del
ENST00000339994.4:c.*58del ENSP00000345708.4:n.*58del
ENST00000528731.1:c.*58del ENSP00000434755.1:n.*58del
ENST00000682350.1:c.*58del ENSP00000508090.1:n.*58del
ENST00000682764.1:c.*50+8del ENSP00000506780.1:n.*50+8del
XM_006718226.2:c.*58del XP_006718289.1:n.*58del
XM_006718226.3:c.*58del XP_006718289.1:n.*58del
XM_017017680.1:c.*58del XP_016873169.1:n.*58del
XR_930867.1:n.1381+8del