Canonical Allele Identifier: CA2825002003

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 3068007
• ClinVar RCV Id: RCV003991687

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840002_128840004delinsAAG , CM000673.2:g.128840002_128840004delinsAAG	GRCh38
NC_000011.9:g.128709897_128709899delinsAAG , CM000673.1:g.128709897_128709899delinsAAG	GRCh37
NC_000011.8:g.128215107_128215109delinsAAG	NCBI36
NG_009379.1:g.32370_32372delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.240_242delinsCTT MANE Select	ENSP00000376434.1:p.Trp80_Tyr81delinsCysPhe
ENST00000324003.3:c.240_242delinsCTT	ENSP00000316136.3:p.Trp80_Tyr81delinsCysPhe
ENST00000324036.7:c.240_242delinsCTT	ENSP00000316233.3:p.Trp80_Tyr81delinsCysPhe
ENST00000392664.2:c.297_299delinsCTT	ENSP00000376432.2:p.Trp99_Tyr100delinsCysPhe
ENST00000392665.6:c.240_242delinsCTT	ENSP00000376433.2:p.Trp80_Tyr81delinsCysPhe
ENST00000392666.5:c.240_242delinsCTT	ENSP00000376434.1:p.Trp80_Tyr81delinsCysPhe
ENST00000440599.6:c.240_242delinsCTT	ENSP00000406320.2:p.Trp80_Tyr81delinsCysPhe
NM_000220.4:c.297_299delinsCTT	NP_000211.1:p.Trp99_Tyr100delinsCysPhe
NM_153764.2:c.240_242delinsCTT	NP_722448.1:p.Trp80_Tyr81delinsCysPhe
NM_153765.2:c.291_293delinsCTT	NP_722449.3:p.Trp97_Tyr98delinsCysPhe
NM_153766.2:c.240_242delinsCTT	NP_722450.1:p.Trp80_Tyr81delinsCysPhe
NM_153767.3:c.240_242delinsCTT	NP_722451.1:p.Trp80_Tyr81delinsCysPhe
NM_000220.6:c.297_299delinsCTT	NP_000211.1:p.Trp99_Tyr100delinsCysPhe
NM_153764.3:c.240_242delinsCTT	NP_722448.1:p.Trp80_Tyr81delinsCysPhe
NM_153765.3:c.291_293delinsCTT	NP_722449.3:p.Trp97_Tyr98delinsCysPhe
NM_153766.3:c.240_242delinsCTT MANE Select	NP_722450.1:p.Trp80_Tyr81delinsCysPhe
NM_153767.4:c.240_242delinsCTT	NP_722451.1:p.Trp80_Tyr81delinsCysPhe