Canonical Allele Identifier: CA2575025046
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839097_128839098del , CM000673.2:g.128839097_128839098del GRCh38
NC_000011.9:g.128708992_128708993del , CM000673.1:g.128708992_128708993del GRCh37
NC_000011.8:g.128214202_128214203del NCBI36
NG_009379.1:g.33277_33278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.*28_*29del MANE Select ENSP00000376434.1:n.*28_*29del
ENST00000324036.7:c.*28_*29del ENSP00000316233.3:n.*28_*29del
ENST00000392664.2:c.*28_*29del ENSP00000376432.2:n.*28_*29del
ENST00000392665.6:c.*28_*29del ENSP00000376433.2:n.*28_*29del
ENST00000392666.5:c.*28_*29del ENSP00000376434.1:n.*28_*29del
ENST00000440599.6:c.*28_*29del ENSP00000406320.2:n.*28_*29del
NM_000220.4:c.*28_*29del NP_000211.1:n.*28_*29del
NM_153764.2:c.*28_*29del NP_722448.1:n.*28_*29del
NM_153765.2:c.*28_*29del NP_722449.3:n.*28_*29del
NM_153766.2:c.*28_*29del NP_722450.1:n.*28_*29del
NM_153767.3:c.*28_*29del NP_722451.1:n.*28_*29del
NM_000220.6:c.*28_*29del NP_000211.1:n.*28_*29del
NM_153764.3:c.*28_*29del NP_722448.1:n.*28_*29del
NM_153765.3:c.*28_*29del NP_722449.3:n.*28_*29del
NM_153766.3:c.*28_*29del MANE Select NP_722450.1:n.*28_*29del
NM_153767.4:c.*28_*29del NP_722451.1:n.*28_*29del