Canonical Allele Identifier: CA2695215889

Gene: KCNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840034del , CM000673.2:g.128840034del	GRCh38
NC_000011.9:g.128709929del , CM000673.1:g.128709929del	GRCh37
NC_000011.8:g.128215139del	NCBI36
NG_009379.1:g.32343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.213del MANE Select	ENSP00000376434.1:p.Ser72ValfsTer12
ENST00000324003.3:c.213del	ENSP00000316136.3:p.Ser72ValfsTer12
ENST00000324036.7:c.213del	ENSP00000316233.3:p.Ser72ValfsTer12
ENST00000392664.2:c.270del	ENSP00000376432.2:p.Ser91ValfsTer12
ENST00000392665.6:c.213del	ENSP00000376433.2:p.Ser72ValfsTer12
ENST00000392666.5:c.213del	ENSP00000376434.1:p.Ser72ValfsTer12
ENST00000440599.6:c.213del	ENSP00000406320.2:p.Ser72ValfsTer12
NM_000220.4:c.270del	NP_000211.1:p.Ser91ValfsTer12
NM_153764.2:c.213del	NP_722448.1:p.Ser72ValfsTer12
NM_153765.2:c.264del	NP_722449.3:p.Ser89ValfsTer12
NM_153766.2:c.213del	NP_722450.1:p.Ser72ValfsTer12
NM_153767.3:c.213del	NP_722451.1:p.Ser72ValfsTer12
NM_000220.6:c.270del	NP_000211.1:p.Ser91ValfsTer12
NM_153764.3:c.213del	NP_722448.1:p.Ser72ValfsTer12
NM_153765.3:c.264del	NP_722449.3:p.Ser89ValfsTer12
NM_153766.3:c.213del MANE Select	NP_722450.1:p.Ser72ValfsTer12
NM_153767.4:c.213del	NP_722451.1:p.Ser72ValfsTer12