Canonical Allele Identifier: CA2612638394

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387045-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387045_17387046insC , CM000673.2:g.17387045_17387046insC	GRCh38
NC_000011.9:g.17408592_17408593insC , CM000673.1:g.17408592_17408593insC	GRCh37
NC_000011.8:g.17365168_17365169insC	NCBI36
NG_012446.1:g.6614_6615insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.785_786insG	ENSP00000508090.1:p.Asp263Ter
ENST00000682764.1:c.785_786insG	ENSP00000506780.1:p.Asp263Ter
ENST00000339994.5:c.1046_1047insG MANE Select	ENSP00000345708.4:p.Asp350Ter
ENST00000339994.4:c.1046_1047insG	ENSP00000345708.4:p.Asp350Ter
ENST00000528731.1:c.785_786insG	ENSP00000434755.1:p.Asp263Ter
NM_000525.3:c.1046_1047insG	NP_000516.3:p.Asp350Ter
NM_001166290.1:c.785_786insG	NP_001159762.1:p.Asp263Ter
XM_006718226.2:c.785_786insG	XP_006718289.1:p.Asp263Ter
XR_930867.1:n.1204_1205insG
XM_006718226.3:c.785_786insG	XP_006718289.1:p.Asp263Ter
XM_017017680.1:c.785_786insG	XP_016873169.1:p.Asp263Ter
NM_001166290.2:c.785_786insG	NP_001159762.1:p.Asp263Ter
NM_001377296.1:c.785_786insG	NP_001364225.1:p.Asp263Ter
NM_001377297.1:c.785_786insG	NP_001364226.1:p.Asp263Ter
NM_000525.4:c.1046_1047insG MANE Select	NP_000516.3:p.Asp350Ter