Canonical Allele Identifier: CA912971886

Gene: KCNJ11

Linked Data

• MyVariant Identifiers: chr11:g.17408795_17408798del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387248_17387251del , CM000673.2:g.17387248_17387251del	GRCh38
NC_000011.9:g.17408795_17408798del , CM000673.1:g.17408795_17408798del	GRCh37
NC_000011.8:g.17365371_17365374del	NCBI36
NG_012446.1:g.6409_6412del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.580_583del	ENSP00000508090.1:p.Leu194ArgfsTer?
ENST00000682764.1:c.580_583del	ENSP00000506780.1:p.Leu194ArgfsTer?
ENST00000339994.5:c.841_844del MANE Select	ENSP00000345708.4:p.Leu281ArgfsTer?
ENST00000339994.4:c.841_844del	ENSP00000345708.4:p.Leu281ArgfsTer?
ENST00000528731.1:c.580_583del	ENSP00000434755.1:p.Leu194ArgfsTer?
NM_000525.3:c.841_844del	NP_000516.3:p.Leu281ArgfsTer?
NM_001166290.1:c.580_583del	NP_001159762.1:p.Leu194ArgfsTer?
XM_006718226.2:c.580_583del	XP_006718289.1:p.Leu194ArgfsTer?
XR_930867.1:n.999_1002del
XM_006718226.3:c.580_583del	XP_006718289.1:p.Leu194ArgfsTer?
XM_017017680.1:c.580_583del	XP_016873169.1:p.Leu194ArgfsTer?
NM_001166290.2:c.580_583del	NP_001159762.1:p.Leu194ArgfsTer?
NM_001377296.1:c.580_583del	NP_001364225.1:p.Leu194ArgfsTer?
NM_001377297.1:c.580_583del	NP_001364226.1:p.Leu194ArgfsTer?
NM_000525.4:c.841_844del MANE Select	NP_000516.3:p.Leu281ArgfsTer?