Canonical Allele Identifier: CA2008250860
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839693_128839694delinsCG , CM000673.2:g.128839693_128839694delinsCG GRCh38
NC_000011.9:g.128709588_128709589delinsCG , CM000673.1:g.128709588_128709589delinsCG GRCh37
NC_000011.8:g.128214798_128214799delinsCG NCBI36
NG_009379.1:g.32680_32681delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.550_551delinsCG MANE Select ENSP00000376434.1:p.Arg184=
ENST00000324036.7:c.550_551delinsCG ENSP00000316233.3:p.Arg184=
ENST00000392664.2:c.607_608delinsCG ENSP00000376432.2:p.Arg203=
ENST00000392665.6:c.550_551delinsCG ENSP00000376433.2:p.Arg184=
ENST00000392666.5:c.550_551delinsCG ENSP00000376434.1:p.Arg184=
ENST00000440599.6:c.550_551delinsCG ENSP00000406320.2:p.Arg184=
NM_000220.4:c.607_608delinsCG NP_000211.1:p.Arg203=
NM_153764.2:c.550_551delinsCG NP_722448.1:p.Arg184=
NM_153765.2:c.601_602delinsCG NP_722449.3:p.Arg201=
NM_153766.2:c.550_551delinsCG NP_722450.1:p.Arg184=
NM_153767.3:c.550_551delinsCG NP_722451.1:p.Arg184=
NM_000220.6:c.607_608delinsCG NP_000211.1:p.Arg203=
NM_153764.3:c.550_551delinsCG NP_722448.1:p.Arg184=
NM_153765.3:c.601_602delinsCG NP_722449.3:p.Arg201=
NM_153766.3:c.550_551delinsCG MANE Select NP_722450.1:p.Arg184=
NM_153767.4:c.550_551delinsCG NP_722451.1:p.Arg184=