Canonical Allele Identifier: CA2561034452
Gene: KCNJ5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891509_128891510dup , CM000673.2:g.128891509_128891510dup GRCh38
NC_000011.9:g.128761404_128761405dup , CM000673.1:g.128761404_128761405dup GRCh37
NC_000011.8:g.128266614_128266615dup NCBI36
NG_023406.2:g.5092_5093dup , LRG_333:g.5092_5093dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-223_-222dup MANE Select ENSP00000433295.1:n.-223_-222dup
ENST00000338350.4:c.-312_-311dup ENSP00000339960.4:n.-312_-311dup
ENST00000529694.5:c.-223_-222dup ENSP00000433295.1:n.-223_-222dup
NM_000890.3:c.-223_-222dup , LRG_333t1:c.-223_-222dup NP_000881.3:n.-223_-222dup
NM_000890.4:c.-223_-222dup NP_000881.3:n.-223_-222dup
NM_001354169.1:c.-312_-311dup NP_001341098.1:n.-312_-311dup
NM_000890.5:c.-223_-222dup MANE Select NP_000881.3:n.-223_-222dup
NM_001354169.2:c.-312_-311dup NP_001341098.1:n.-312_-311dup