Canonical Allele Identifier: CA3256238539

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386860_17386861insGCCCACACCACGTCCGCT , CM000673.2:g.17386860_17386861insGCCCACACCACGTCCGCT	GRCh38
NC_000011.9:g.17408407_17408408insGCCCACACCACGTCCGCT , CM000673.1:g.17408407_17408408insGCCCACACCACGTCCGCT	GRCh37
NC_000011.8:g.17364983_17364984insGCCCACACCACGTCCGCT	NCBI36
NG_012446.1:g.6799_6800insAGCGGACGTGGTGTGGGC

Transcript Alleles

HGVS	Amino-acid Change
NM_000525.4:c.*58_*59insAGCGGACGTGGTGTGGGC MANE Select	NP_000516.3:n.*58_*59insAGCGGACGTGGTGTGGGC
ENST00000339994.5:c.*58_*59insAGCGGACGTGGTGTGGGC MANE Select	ENSP00000345708.4:n.*58_*59insAGCGGACGTGGTGTGGGC
NM_000525.3:c.*58_*59insAGCGGACGTGGTGTGGGC	NP_000516.3:n.*58_*59insAGCGGACGTGGTGTGGGC
NM_001166290.1:c.*58_*59insAGCGGACGTGGTGTGGGC	NP_001159762.1:n.*58_*59insAGCGGACGTGGTGTGGGC
NM_001166290.2:c.*58_*59insAGCGGACGTGGTGTGGGC	NP_001159762.1:n.*58_*59insAGCGGACGTGGTGTGGGC
NM_001377296.1:c.*58_*59insAGCGGACGTGGTGTGGGC	NP_001364225.1:n.*58_*59insAGCGGACGTGGTGTGGGC
NM_001377297.1:c.*58_*59insAGCGGACGTGGTGTGGGC	NP_001364226.1:n.*58_*59insAGCGGACGTGGTGTGGGC
ENST00000339994.4:c.*58_*59insAGCGGACGTGGTGTGGGC	ENSP00000345708.4:n.*58_*59insAGCGGACGTGGTGTGGGC
ENST00000528731.1:c.*58_*59insAGCGGACGTGGTGTGGGC	ENSP00000434755.1:n.*58_*59insAGCGGACGTGGTGTGGGC
ENST00000682350.1:c.*58_*59insAGCGGACGTGGTGTGGGC	ENSP00000508090.1:n.*58_*59insAGCGGACGTGGTGTGGGC
ENST00000682764.1:c.*50+8_*50+9insAGCGGACGTGGTGTGGGC	ENSP00000506780.1:n.*50+8_*50+9insAGCGGACGTGGTGTGGGC
XM_006718226.2:c.*58_*59insAGCGGACGTGGTGTGGGC	XP_006718289.1:n.*58_*59insAGCGGACGTGGTGTGGGC
XM_006718226.3:c.*58_*59insAGCGGACGTGGTGTGGGC	XP_006718289.1:n.*58_*59insAGCGGACGTGGTGTGGGC
XM_017017680.1:c.*58_*59insAGCGGACGTGGTGTGGGC	XP_016873169.1:n.*58_*59insAGCGGACGTGGTGTGGGC
XR_930867.1:n.1381+8_1381+9insAGCGGACGTGGTGTGGGC