Canonical Allele Identifier: CA5902298

Gene: KCNJ11

Linked Data

• dbSNP Id: rs757062550
• ExAC: 11:17409286 GAGA / G
• gnomAD v2: 11-17409286-GAGA-G
• gnomAD v3: 11-17387739-GAGA-G
• gnomAD v4: 11-17387739-GAGA-G
• MyVariant Identifiers: chr11:g.17409287_17409289del (hg19) ; chr11:g.17387740_17387742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387742_17387744del , CM000673.2:g.17387742_17387744del	GRCh38
NC_000011.9:g.17409289_17409291del , CM000673.1:g.17409289_17409291del	GRCh37
NC_000011.8:g.17365865_17365867del	NCBI36
NG_012446.1:g.5918_5920del

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.122_124del	ENSP00000436479.2:p.Phe41del
ENST00000682350.1:c.89_91del	ENSP00000508090.1:p.Phe30del
ENST00000682764.1:c.89_91del	ENSP00000506780.1:p.Phe30del
ENST00000339994.5:c.350_352del MANE Select	ENSP00000345708.4:p.Phe117del
ENST00000339994.4:c.350_352del	ENSP00000345708.4:p.Phe117del
ENST00000526912.1:c.89_91del	ENSP00000432729.1:p.Phe30del
ENST00000528731.1:c.89_91del	ENSP00000434755.1:p.Phe30del
ENST00000528992.1:c.367_369del
NM_000525.3:c.350_352del	NP_000516.3:p.Phe117del
NM_001166290.1:c.89_91del	NP_001159762.1:p.Phe30del
XM_006718226.2:c.89_91del	XP_006718289.1:p.Phe30del
XR_930867.1:n.508_510del
XM_006718226.3:c.89_91del	XP_006718289.1:p.Phe30del
XM_017017680.1:c.89_91del	XP_016873169.1:p.Phe30del
NM_001166290.2:c.89_91del	NP_001159762.1:p.Phe30del
NM_001377296.1:c.89_91del	NP_001364225.1:p.Phe30del
NM_001377297.1:c.89_91del	NP_001364226.1:p.Phe30del
NM_000525.4:c.350_352del MANE Select	NP_000516.3:p.Phe117del