Canonical Allele Identifier: CA2794083163

Gene: KCNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839342_128839343insCACACCCAAC , CM000673.2:g.128839342_128839343insCACACCCAAC	GRCh38
NC_000011.9:g.128709237_128709238insCACACCCAAC , CM000673.1:g.128709237_128709238insCACACCCAAC	GRCh37
NC_000011.8:g.128214447_128214448insCACACCCAAC	NCBI36
NG_009379.1:g.33031_33032insGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.901_902insGTTGGGTGTG MANE Select	ENSP00000376434.1:p.Leu301ArgfsTer27
ENST00000324036.7:c.901_902insGTTGGGTGTG	ENSP00000316233.3:p.Leu301ArgfsTer27
ENST00000392664.2:c.958_959insGTTGGGTGTG	ENSP00000376432.2:p.Leu320ArgfsTer27
ENST00000392665.6:c.901_902insGTTGGGTGTG	ENSP00000376433.2:p.Leu301ArgfsTer27
ENST00000392666.5:c.901_902insGTTGGGTGTG	ENSP00000376434.1:p.Leu301ArgfsTer27
ENST00000440599.6:c.901_902insGTTGGGTGTG	ENSP00000406320.2:p.Leu301ArgfsTer27
NM_000220.4:c.958_959insGTTGGGTGTG	NP_000211.1:p.Leu320ArgfsTer27
NM_153764.2:c.901_902insGTTGGGTGTG	NP_722448.1:p.Leu301ArgfsTer27
NM_153765.2:c.952_953insGTTGGGTGTG	NP_722449.3:p.Leu318ArgfsTer27
NM_153766.2:c.901_902insGTTGGGTGTG	NP_722450.1:p.Leu301ArgfsTer27
NM_153767.3:c.901_902insGTTGGGTGTG	NP_722451.1:p.Leu301ArgfsTer27
NM_000220.6:c.958_959insGTTGGGTGTG	NP_000211.1:p.Leu320ArgfsTer27
NM_153764.3:c.901_902insGTTGGGTGTG	NP_722448.1:p.Leu301ArgfsTer27
NM_153765.3:c.952_953insGTTGGGTGTG	NP_722449.3:p.Leu318ArgfsTer27
NM_153766.3:c.901_902insGTTGGGTGTG MANE Select	NP_722450.1:p.Leu301ArgfsTer27
NM_153767.4:c.901_902insGTTGGGTGTG	NP_722451.1:p.Leu301ArgfsTer27