Canonical Allele Identifier: CA673266317

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1461594654
• MyVariant Identifiers: chr11:g.128709366del (hg19) ; chr11:g.128839471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839473del , CM000673.2:g.128839473del	GRCh38
NC_000011.9:g.128709368del , CM000673.1:g.128709368del	GRCh37
NC_000011.8:g.128214578del	NCBI36
NG_009379.1:g.32903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.773del MANE Select	ENSP00000376434.1:p.Pro258LeufsTer17
ENST00000324036.7:c.773del	ENSP00000316233.3:p.Pro258LeufsTer17
ENST00000392664.2:c.830del	ENSP00000376432.2:p.Pro277LeufsTer17
ENST00000392665.6:c.773del	ENSP00000376433.2:p.Pro258LeufsTer17
ENST00000392666.5:c.773del	ENSP00000376434.1:p.Pro258LeufsTer17
ENST00000440599.6:c.773del	ENSP00000406320.2:p.Pro258LeufsTer17
NM_000220.4:c.830del	NP_000211.1:p.Pro277LeufsTer17
NM_153764.2:c.773del	NP_722448.1:p.Pro258LeufsTer17
NM_153765.2:c.824del	NP_722449.3:p.Pro275LeufsTer17
NM_153766.2:c.773del	NP_722450.1:p.Pro258LeufsTer17
NM_153767.3:c.773del	NP_722451.1:p.Pro258LeufsTer17
NM_000220.6:c.830del	NP_000211.1:p.Pro277LeufsTer17
NM_153764.3:c.773del	NP_722448.1:p.Pro258LeufsTer17
NM_153765.3:c.824del	NP_722449.3:p.Pro275LeufsTer17
NM_153766.3:c.773del MANE Select	NP_722450.1:p.Pro258LeufsTer17
NM_153767.4:c.773del	NP_722451.1:p.Pro258LeufsTer17