Canonical Allele Identifier: CA2616771387

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128840068-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840069del , CM000673.2:g.128840069del	GRCh38
NC_000011.9:g.128709964del , CM000673.1:g.128709964del	GRCh37
NC_000011.8:g.128215174del	NCBI36
NG_009379.1:g.32305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.175del MANE Select	ENSP00000376434.1:p.Arg59AspfsTer4
ENST00000324003.3:c.175del	ENSP00000316136.3:p.Arg59AspfsTer4
ENST00000324036.7:c.175del	ENSP00000316233.3:p.Arg59AspfsTer4
ENST00000392664.2:c.232del	ENSP00000376432.2:p.Arg78AspfsTer4
ENST00000392665.6:c.175del	ENSP00000376433.2:p.Arg59AspfsTer4
ENST00000392666.5:c.175del	ENSP00000376434.1:p.Arg59AspfsTer4
ENST00000440599.6:c.175del	ENSP00000406320.2:p.Arg59AspfsTer4
ENST00000531562.1:n.520del
NM_000220.4:c.232del	NP_000211.1:p.Arg78AspfsTer4
NM_153764.2:c.175del	NP_722448.1:p.Arg59AspfsTer4
NM_153765.2:c.226del	NP_722449.3:p.Arg76AspfsTer4
NM_153766.2:c.175del	NP_722450.1:p.Arg59AspfsTer4
NM_153767.3:c.175del	NP_722451.1:p.Arg59AspfsTer4
NM_000220.6:c.232del	NP_000211.1:p.Arg78AspfsTer4
NM_153764.3:c.175del	NP_722448.1:p.Arg59AspfsTer4
NM_153765.3:c.226del	NP_722449.3:p.Arg76AspfsTer4
NM_153766.3:c.175del MANE Select	NP_722450.1:p.Arg59AspfsTer4
NM_153767.4:c.175del	NP_722451.1:p.Arg59AspfsTer4