Canonical Allele Identifier: CA2695215887

Gene: KCNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839855_128839856insGTGTTCAGG , CM000673.2:g.128839855_128839856insGTGTTCAGG	GRCh38
NC_000011.9:g.128709750_128709751insGTGTTCAGG , CM000673.1:g.128709750_128709751insGTGTTCAGG	GRCh37
NC_000011.8:g.128214960_128214961insGTGTTCAGG	NCBI36
NG_009379.1:g.32518_32519insCCTGAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.388_389insCCTGAACAC MANE Select	ENSP00000376434.1:p.Val130AlafsTer2
ENST00000324003.3:c.388_389insCCTGAACAC	ENSP00000316136.3:p.Val130AlafsTer2
ENST00000324036.7:c.388_389insCCTGAACAC	ENSP00000316233.3:p.Val130AlafsTer2
ENST00000392664.2:c.445_446insCCTGAACAC	ENSP00000376432.2:p.Val149AlafsTer2
ENST00000392665.6:c.388_389insCCTGAACAC	ENSP00000376433.2:p.Val130AlafsTer2
ENST00000392666.5:c.388_389insCCTGAACAC	ENSP00000376434.1:p.Val130AlafsTer2
ENST00000440599.6:c.388_389insCCTGAACAC	ENSP00000406320.2:p.Val130AlafsTer2
NM_000220.4:c.445_446insCCTGAACAC	NP_000211.1:p.Val149AlafsTer2
NM_153764.2:c.388_389insCCTGAACAC	NP_722448.1:p.Val130AlafsTer2
NM_153765.2:c.439_440insCCTGAACAC	NP_722449.3:p.Val147AlafsTer2
NM_153766.2:c.388_389insCCTGAACAC	NP_722450.1:p.Val130AlafsTer2
NM_153767.3:c.388_389insCCTGAACAC	NP_722451.1:p.Val130AlafsTer2
NM_000220.6:c.445_446insCCTGAACAC	NP_000211.1:p.Val149AlafsTer2
NM_153764.3:c.388_389insCCTGAACAC	NP_722448.1:p.Val130AlafsTer2
NM_153765.3:c.439_440insCCTGAACAC	NP_722449.3:p.Val147AlafsTer2
NM_153766.3:c.388_389insCCTGAACAC MANE Select	NP_722450.1:p.Val130AlafsTer2
NM_153767.4:c.388_389insCCTGAACAC	NP_722451.1:p.Val130AlafsTer2