Canonical Allele Identifier: CA597904287

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 555247
• ClinVar RCV Id: RCV000671033 ; RCV002226730
• dbSNP Id: rs1337406718
• gnomAD v2: 11-17408574-T-TA
• MyVariant Identifiers: chr11:g.17408574_17408575insA (hg19) ; chr11:g.17387028dup (hg38) ; chr11:g.17387027_17387028insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387028dup , CM000673.2:g.17387028dup	GRCh38
NC_000011.9:g.17408575dup , CM000673.1:g.17408575dup	GRCh37
NC_000011.8:g.17365151dup	NCBI36
NG_012446.1:g.6632dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.803dup	ENSP00000508090.1:p.Leu269ThrfsTer?
ENST00000682764.1:c.803dup	ENSP00000506780.1:p.Leu269ThrfsTer?
ENST00000339994.5:c.1064dup MANE Select	ENSP00000345708.4:p.Leu356ThrfsTer?
ENST00000339994.4:c.1064dup	ENSP00000345708.4:p.Leu356ThrfsTer?
ENST00000528731.1:c.803dup	ENSP00000434755.1:p.Leu269ThrfsTer?
NM_000525.3:c.1064dup	NP_000516.3:p.Leu356ThrfsTer?
NM_001166290.1:c.803dup	NP_001159762.1:p.Leu269ThrfsTer?
XM_006718226.2:c.803dup	XP_006718289.1:p.Leu269ThrfsTer?
XR_930867.1:n.1222dup
XM_006718226.3:c.803dup	XP_006718289.1:p.Leu269ThrfsTer?
XM_017017680.1:c.803dup	XP_016873169.1:p.Leu269ThrfsTer?
NM_001166290.2:c.803dup	NP_001159762.1:p.Leu269ThrfsTer?
NM_001377296.1:c.803dup	NP_001364225.1:p.Leu269ThrfsTer?
NM_001377297.1:c.803dup	NP_001364226.1:p.Leu269ThrfsTer?
NM_000525.4:c.1064dup MANE Select	NP_000516.3:p.Leu356ThrfsTer?