Canonical Allele Identifier: CA673265905

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 1341767
• ClinVar RCV Id: RCV001837247
• dbSNP Id: rs768286324
• gnomAD v3: 11-128839242-AG-A
• gnomAD v4: 11-128839242-AG-A
• MyVariant Identifiers: chr11:g.128709138del (hg19) ; chr11:g.128839243del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839246del , CM000673.2:g.128839246del	GRCh38
NC_000011.9:g.128709141del , CM000673.1:g.128709141del	GRCh37
NC_000011.8:g.128214351del	NCBI36
NG_009379.1:g.33131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.1001del MANE Select	ENSP00000376434.1:p.Pro334LeufsTer17
ENST00000324036.7:c.1001del	ENSP00000316233.3:p.Pro334LeufsTer17
ENST00000392664.2:c.1058del	ENSP00000376432.2:p.Pro353LeufsTer17
ENST00000392665.6:c.1001del	ENSP00000376433.2:p.Pro334LeufsTer17
ENST00000392666.5:c.1001del	ENSP00000376434.1:p.Pro334LeufsTer17
ENST00000440599.6:c.1001del	ENSP00000406320.2:p.Pro334LeufsTer17
NM_000220.4:c.1058del	NP_000211.1:p.Pro353LeufsTer17
NM_153764.2:c.1001del	NP_722448.1:p.Pro334LeufsTer17
NM_153765.2:c.1052del	NP_722449.3:p.Pro351LeufsTer17
NM_153766.2:c.1001del	NP_722450.1:p.Pro334LeufsTer17
NM_153767.3:c.1001del	NP_722451.1:p.Pro334LeufsTer17
NM_000220.6:c.1058del	NP_000211.1:p.Pro353LeufsTer17
NM_153764.3:c.1001del	NP_722448.1:p.Pro334LeufsTer17
NM_153765.3:c.1052del	NP_722449.3:p.Pro351LeufsTer17
NM_153766.3:c.1001del MANE Select	NP_722450.1:p.Pro334LeufsTer17
NM_153767.4:c.1001del	NP_722451.1:p.Pro334LeufsTer17