Canonical Allele Identifier: CA477703224

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1450283924
• gnomAD v3: 11-128839598-CTG-C
• gnomAD v4: 11-128839598-CTG-C
• MyVariant Identifiers: chr11:g.128709494_128709495del (hg19) ; chr11:g.128839599_128839600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839601_128839602del , CM000673.2:g.128839601_128839602del	GRCh38
NC_000011.9:g.128709496_128709497del , CM000673.1:g.128709496_128709497del	GRCh37
NC_000011.8:g.128214706_128214707del	NCBI36
NG_009379.1:g.32774_32775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.644_645del MANE Select	ENSP00000376434.1:p.Thr215SerfsTer4
ENST00000324036.7:c.644_645del	ENSP00000316233.3:p.Thr215SerfsTer4
ENST00000392664.2:c.701_702del	ENSP00000376432.2:p.Thr234SerfsTer4
ENST00000392665.6:c.644_645del	ENSP00000376433.2:p.Thr215SerfsTer4
ENST00000392666.5:c.644_645del	ENSP00000376434.1:p.Thr215SerfsTer4
ENST00000440599.6:c.644_645del	ENSP00000406320.2:p.Thr215SerfsTer4
NM_000220.4:c.701_702del	NP_000211.1:p.Thr234SerfsTer4
NM_153764.2:c.644_645del	NP_722448.1:p.Thr215SerfsTer4
NM_153765.2:c.695_696del	NP_722449.3:p.Thr232SerfsTer4
NM_153766.2:c.644_645del	NP_722450.1:p.Thr215SerfsTer4
NM_153767.3:c.644_645del	NP_722451.1:p.Thr215SerfsTer4
NM_000220.6:c.701_702del	NP_000211.1:p.Thr234SerfsTer4
NM_153764.3:c.644_645del	NP_722448.1:p.Thr215SerfsTer4
NM_153765.3:c.695_696del	NP_722449.3:p.Thr232SerfsTer4
NM_153766.3:c.644_645del MANE Select	NP_722450.1:p.Thr215SerfsTer4
NM_153767.4:c.644_645del	NP_722451.1:p.Thr215SerfsTer4