Canonical Allele Identifier: CA1955118976
Community Standard Title: NM_000525.4(KCNJ11):c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386837_17386856delinsGCCTCACACCAGGCCCTGGC , CM000673.2:g.17386837_17386856delinsGCCTCACACCAGGCCCTGGC GRCh38
NC_000011.9:g.17408384_17408403delinsGCCTCACACCAGGCCCTGGC , CM000673.1:g.17408384_17408403delinsGCCTCACACCAGGCCCTGGC GRCh37
NC_000011.8:g.17364960_17364979delinsGCCTCACACCAGGCCCTGGC NCBI36
NG_012446.1:g.6804_6823delinsGCCAGGGCCTGGTGTGAGGC

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC MANE Select NP_000516.3:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
ENST00000339994.5:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC MANE Select ENSP00000345708.4:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
NM_000525.3:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC NP_000516.3:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
NM_001166290.1:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC NP_001159762.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
NM_001166290.2:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC NP_001159762.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
NM_001377296.1:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC NP_001364225.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
NM_001377297.1:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC NP_001364226.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
ENST00000339994.4:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC ENSP00000345708.4:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
ENST00000528731.1:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC ENSP00000434755.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
ENST00000682350.1:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC ENSP00000508090.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
ENST00000682764.1:c.*50+13_*50+32delinsGCCAGGGCCTGGTGTGAGGC ENSP00000506780.1:n.*50+13_*50+32delinsGCCAGGGCCTGGTGTGAGGC
XM_006718226.2:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC XP_006718289.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
XM_006718226.3:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC XP_006718289.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
XM_017017680.1:c.*63_*82delinsGCCAGGGCCTGGTGTGAGGC XP_016873169.1:n.*63_*82delinsGCCAGGGCCTGGTGTGAGGC
XR_930867.1:n.1381+13_1381+32delinsGCCAGGGCCTGGTGTGAGGC