Canonical Allele Identifier: CA2825002002

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 3068341
• ClinVar RCV Id: RCV003992016

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839345_128839346del , CM000673.2:g.128839345_128839346del	GRCh38
NC_000011.9:g.128709240_128709241del , CM000673.1:g.128709240_128709241del	GRCh37
NC_000011.8:g.128214450_128214451del	NCBI36
NG_009379.1:g.33029_33030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.899_900del MANE Select	ENSP00000376434.1:p.Val300AlafsTer24
ENST00000324036.7:c.899_900del	ENSP00000316233.3:p.Val300AlafsTer24
ENST00000392664.2:c.956_957del	ENSP00000376432.2:p.Val319AlafsTer24
ENST00000392665.6:c.899_900del	ENSP00000376433.2:p.Val300AlafsTer24
ENST00000392666.5:c.899_900del	ENSP00000376434.1:p.Val300AlafsTer24
ENST00000440599.6:c.899_900del	ENSP00000406320.2:p.Val300AlafsTer24
NM_000220.4:c.956_957del	NP_000211.1:p.Val319AlafsTer24
NM_153764.2:c.899_900del	NP_722448.1:p.Val300AlafsTer24
NM_153765.2:c.950_951del	NP_722449.3:p.Val317AlafsTer24
NM_153766.2:c.899_900del	NP_722450.1:p.Val300AlafsTer24
NM_153767.3:c.899_900del	NP_722451.1:p.Val300AlafsTer24
NM_000220.6:c.956_957del	NP_000211.1:p.Val319AlafsTer24
NM_153764.3:c.899_900del	NP_722448.1:p.Val300AlafsTer24
NM_153765.3:c.950_951del	NP_722449.3:p.Val317AlafsTer24
NM_153766.3:c.899_900del MANE Select	NP_722450.1:p.Val300AlafsTer24
NM_153767.4:c.899_900del	NP_722451.1:p.Val300AlafsTer24