Canonical Allele Identifier: CA2539254176

Gene: KCNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839686_128839687insTGAAGACCACAGT , CM000673.2:g.128839686_128839687insTGAAGACCACAGT	GRCh38
NC_000011.9:g.128709581_128709582insTGAAGACCACAGT , CM000673.1:g.128709581_128709582insTGAAGACCACAGT	GRCh37
NC_000011.8:g.128214791_128214792insTGAAGACCACAGT	NCBI36
NG_009379.1:g.32687_32688insACTGTGGTCTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.557_558insACTGTGGTCTTCA MANE Select	ENSP00000376434.1:p.Lys187LeufsTer14
ENST00000324036.7:c.557_558insACTGTGGTCTTCA	ENSP00000316233.3:p.Lys187LeufsTer14
ENST00000392664.2:c.614_615insACTGTGGTCTTCA	ENSP00000376432.2:p.Lys206LeufsTer14
ENST00000392665.6:c.557_558insACTGTGGTCTTCA	ENSP00000376433.2:p.Lys187LeufsTer14
ENST00000392666.5:c.557_558insACTGTGGTCTTCA	ENSP00000376434.1:p.Lys187LeufsTer14
ENST00000440599.6:c.557_558insACTGTGGTCTTCA	ENSP00000406320.2:p.Lys187LeufsTer14
NM_000220.4:c.614_615insACTGTGGTCTTCA	NP_000211.1:p.Lys206LeufsTer14
NM_153764.2:c.557_558insACTGTGGTCTTCA	NP_722448.1:p.Lys187LeufsTer14
NM_153765.2:c.608_609insACTGTGGTCTTCA	NP_722449.3:p.Lys204LeufsTer14
NM_153766.2:c.557_558insACTGTGGTCTTCA	NP_722450.1:p.Lys187LeufsTer14
NM_153767.3:c.557_558insACTGTGGTCTTCA	NP_722451.1:p.Lys187LeufsTer14
NM_000220.6:c.614_615insACTGTGGTCTTCA	NP_000211.1:p.Lys206LeufsTer14
NM_153764.3:c.557_558insACTGTGGTCTTCA	NP_722448.1:p.Lys187LeufsTer14
NM_153765.3:c.608_609insACTGTGGTCTTCA	NP_722449.3:p.Lys204LeufsTer14
NM_153766.3:c.557_558insACTGTGGTCTTCA MANE Select	NP_722450.1:p.Lys187LeufsTer14
NM_153767.4:c.557_558insACTGTGGTCTTCA	NP_722451.1:p.Lys187LeufsTer14