Canonical Allele Identifier: CA2616771378

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128839348-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839350del , CM000673.2:g.128839350del	GRCh38
NC_000011.9:g.128709245del , CM000673.1:g.128709245del	GRCh37
NC_000011.8:g.128214455del	NCBI36
NG_009379.1:g.33025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.895del MANE Select	ENSP00000376434.1:p.Glu299ArgfsTer11
ENST00000324036.7:c.895del	ENSP00000316233.3:p.Glu299ArgfsTer11
ENST00000392664.2:c.952del	ENSP00000376432.2:p.Glu318ArgfsTer11
ENST00000392665.6:c.895del	ENSP00000376433.2:p.Glu299ArgfsTer11
ENST00000392666.5:c.895del	ENSP00000376434.1:p.Glu299ArgfsTer11
ENST00000440599.6:c.895del	ENSP00000406320.2:p.Glu299ArgfsTer11
NM_000220.4:c.952del	NP_000211.1:p.Glu318ArgfsTer11
NM_153764.2:c.895del	NP_722448.1:p.Glu299ArgfsTer11
NM_153765.2:c.946del	NP_722449.3:p.Glu316ArgfsTer11
NM_153766.2:c.895del	NP_722450.1:p.Glu299ArgfsTer11
NM_153767.3:c.895del	NP_722451.1:p.Glu299ArgfsTer11
NM_000220.6:c.952del	NP_000211.1:p.Glu318ArgfsTer11
NM_153764.3:c.895del	NP_722448.1:p.Glu299ArgfsTer11
NM_153765.3:c.946del	NP_722449.3:p.Glu316ArgfsTer11
NM_153766.3:c.895del MANE Select	NP_722450.1:p.Glu299ArgfsTer11
NM_153767.4:c.895del	NP_722451.1:p.Glu299ArgfsTer11