Canonical Allele Identifier: CA2008250866

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1943244338
• gnomAD v4: 11-128839693-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839694del , CM000673.2:g.128839694del	GRCh38
NC_000011.9:g.128709589del , CM000673.1:g.128709589del	GRCh37
NC_000011.8:g.128214799del	NCBI36
NG_009379.1:g.32680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.550del MANE Select	ENSP00000376434.1:p.Arg184GlyfsTer8
ENST00000324036.7:c.550del	ENSP00000316233.3:p.Arg184GlyfsTer8
ENST00000392664.2:c.607del	ENSP00000376432.2:p.Arg203GlyfsTer8
ENST00000392665.6:c.550del	ENSP00000376433.2:p.Arg184GlyfsTer8
ENST00000392666.5:c.550del	ENSP00000376434.1:p.Arg184GlyfsTer8
ENST00000440599.6:c.550del	ENSP00000406320.2:p.Arg184GlyfsTer8
NM_000220.4:c.607del	NP_000211.1:p.Arg203GlyfsTer8
NM_153764.2:c.550del	NP_722448.1:p.Arg184GlyfsTer8
NM_153765.2:c.601del	NP_722449.3:p.Arg201GlyfsTer8
NM_153766.2:c.550del	NP_722450.1:p.Arg184GlyfsTer8
NM_153767.3:c.550del	NP_722451.1:p.Arg184GlyfsTer8
NM_000220.6:c.607del	NP_000211.1:p.Arg203GlyfsTer8
NM_153764.3:c.550del	NP_722448.1:p.Arg184GlyfsTer8
NM_153765.3:c.601del	NP_722449.3:p.Arg201GlyfsTer8
NM_153766.3:c.550del MANE Select	NP_722450.1:p.Arg184GlyfsTer8
NM_153767.4:c.550del	NP_722451.1:p.Arg184GlyfsTer8