Canonical Allele Identifier: CA2794083166

Gene: KCNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839752_128839756del , CM000673.2:g.128839752_128839756del	GRCh38
NC_000011.9:g.128709647_128709651del , CM000673.1:g.128709647_128709651del	GRCh37
NC_000011.8:g.128214857_128214861del	NCBI36
NG_009379.1:g.32618_32622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.488_492del MANE Select	ENSP00000376434.1:p.Ile163LysfsTer?
ENST00000324036.7:c.488_492del	ENSP00000316233.3:p.Ile163LysfsTer?
ENST00000392664.2:c.545_549del	ENSP00000376432.2:p.Ile182LysfsTer?
ENST00000392665.6:c.488_492del	ENSP00000376433.2:p.Ile163LysfsTer?
ENST00000392666.5:c.488_492del	ENSP00000376434.1:p.Ile163LysfsTer?
ENST00000440599.6:c.488_492del	ENSP00000406320.2:p.Ile163LysfsTer?
NM_000220.4:c.545_549del	NP_000211.1:p.Ile182LysfsTer?
NM_153764.2:c.488_492del	NP_722448.1:p.Ile163LysfsTer?
NM_153765.2:c.539_543del	NP_722449.3:p.Ile180LysfsTer?
NM_153766.2:c.488_492del	NP_722450.1:p.Ile163LysfsTer?
NM_153767.3:c.488_492del	NP_722451.1:p.Ile163LysfsTer?
NM_000220.6:c.545_549del	NP_000211.1:p.Ile182LysfsTer?
NM_153764.3:c.488_492del	NP_722448.1:p.Ile163LysfsTer?
NM_153765.3:c.539_543del	NP_722449.3:p.Ile180LysfsTer?
NM_153766.3:c.488_492del MANE Select	NP_722450.1:p.Ile163LysfsTer?
NM_153767.4:c.488_492del	NP_722451.1:p.Ile163LysfsTer?