Canonical Allele Identifier: CA3003288115
Community Standard Title: NM_000525.4(KCNJ11):c.*69dup
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386852dup , CM000673.2:g.17386852dup GRCh38
NC_000011.9:g.17408399dup , CM000673.1:g.17408399dup GRCh37
NC_000011.8:g.17364975dup NCBI36
NG_012446.1:g.6810dup

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.*69dup MANE Select NP_000516.3:n.*69dup
ENST00000339994.5:c.*69dup MANE Select ENSP00000345708.4:n.*69dup
NM_000525.3:c.*69dup NP_000516.3:n.*69dup
NM_001166290.1:c.*69dup NP_001159762.1:n.*69dup
NM_001166290.2:c.*69dup NP_001159762.1:n.*69dup
NM_001377296.1:c.*69dup NP_001364225.1:n.*69dup
NM_001377297.1:c.*69dup NP_001364226.1:n.*69dup
ENST00000339994.4:c.*69dup ENSP00000345708.4:n.*69dup
ENST00000528731.1:c.*69dup ENSP00000434755.1:n.*69dup
ENST00000682350.1:c.*69dup ENSP00000508090.1:n.*69dup
ENST00000682764.1:c.*50+19dup ENSP00000506780.1:n.*50+19dup
XM_006718226.2:c.*69dup XP_006718289.1:n.*69dup
XM_006718226.3:c.*69dup XP_006718289.1:n.*69dup
XM_017017680.1:c.*69dup XP_016873169.1:n.*69dup
XR_930867.1:n.1381+19dup