Canonical Allele Identifier: CA2616771375

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128839294-TTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839296_128839299del , CM000673.2:g.128839296_128839299del	GRCh38
NC_000011.9:g.128709191_128709194del , CM000673.1:g.128709191_128709194del	GRCh37
NC_000011.8:g.128214401_128214404del	NCBI36
NG_009379.1:g.33076_33079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.946_949del MANE Select	ENSP00000376434.1:p.Gly316AsnfsTer?
ENST00000324036.7:c.946_949del	ENSP00000316233.3:p.Gly316AsnfsTer?
ENST00000392664.2:c.1003_1006del	ENSP00000376432.2:p.Gly335AsnfsTer?
ENST00000392665.6:c.946_949del	ENSP00000376433.2:p.Gly316AsnfsTer?
ENST00000392666.5:c.946_949del	ENSP00000376434.1:p.Gly316AsnfsTer?
ENST00000440599.6:c.946_949del	ENSP00000406320.2:p.Gly316AsnfsTer?
NM_000220.4:c.1003_1006del	NP_000211.1:p.Gly335AsnfsTer?
NM_153764.2:c.946_949del	NP_722448.1:p.Gly316AsnfsTer?
NM_153765.2:c.997_1000del	NP_722449.3:p.Gly333AsnfsTer?
NM_153766.2:c.946_949del	NP_722450.1:p.Gly316AsnfsTer?
NM_153767.3:c.946_949del	NP_722451.1:p.Gly316AsnfsTer?
NM_000220.6:c.1003_1006del	NP_000211.1:p.Gly335AsnfsTer?
NM_153764.3:c.946_949del	NP_722448.1:p.Gly316AsnfsTer?
NM_153765.3:c.997_1000del	NP_722449.3:p.Gly333AsnfsTer?
NM_153766.3:c.946_949del MANE Select	NP_722450.1:p.Gly316AsnfsTer?
NM_153767.4:c.946_949del	NP_722451.1:p.Gly316AsnfsTer?