Canonical Allele Identifier: CA2612637813

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17386797-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386799del , CM000673.2:g.17386799del	GRCh38
NC_000011.9:g.17408346del , CM000673.1:g.17408346del	GRCh37
NC_000011.8:g.17364922del	NCBI36
NG_012446.1:g.6862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*121del	ENSP00000508090.1:n.*121del
ENST00000682764.1:c.*50+71del	ENSP00000506780.1:n.*50+71del
ENST00000339994.5:c.*121del MANE Select	ENSP00000345708.4:n.*121del
ENST00000339994.4:c.*121del	ENSP00000345708.4:n.*121del
ENST00000528731.1:c.*121del	ENSP00000434755.1:n.*121del
NM_000525.3:c.*121del	NP_000516.3:n.*121del
NM_001166290.1:c.*121del	NP_001159762.1:n.*121del
XM_006718226.2:c.*121del	XP_006718289.1:n.*121del
XR_930867.1:n.1381+71del
XM_006718226.3:c.*121del	XP_006718289.1:n.*121del
XM_017017680.1:c.*121del	XP_016873169.1:n.*121del
NM_001166290.2:c.*121del	NP_001159762.1:n.*121del
NM_001377296.1:c.*121del	NP_001364225.1:n.*121del
NM_001377297.1:c.*121del	NP_001364226.1:n.*121del
NM_000525.4:c.*121del MANE Select	NP_000516.3:n.*121del