Canonical Allele Identifier: CA2612638007

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17386830-T-TGGCCCAGCCTCACACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386836_17386852dup , CM000673.2:g.17386836_17386852dup	GRCh38
NC_000011.9:g.17408383_17408399dup , CM000673.1:g.17408383_17408399dup	GRCh37
NC_000011.8:g.17364959_17364975dup	NCBI36
NG_012446.1:g.6813_6829dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*72_*88dup	ENSP00000508090.1:n.*72_*88dup
ENST00000682764.1:c.*50+22_*50+38dup	ENSP00000506780.1:n.*50+22_*50+38dup
ENST00000339994.5:c.*72_*88dup MANE Select	ENSP00000345708.4:n.*72_*88dup
ENST00000339994.4:c.*72_*88dup	ENSP00000345708.4:n.*72_*88dup
ENST00000528731.1:c.*72_*88dup	ENSP00000434755.1:n.*72_*88dup
NM_000525.3:c.*72_*88dup	NP_000516.3:n.*72_*88dup
NM_001166290.1:c.*72_*88dup	NP_001159762.1:n.*72_*88dup
XM_006718226.2:c.*72_*88dup	XP_006718289.1:n.*72_*88dup
XR_930867.1:n.1381+22_1381+38dup
XM_006718226.3:c.*72_*88dup	XP_006718289.1:n.*72_*88dup
XM_017017680.1:c.*72_*88dup	XP_016873169.1:n.*72_*88dup
NM_001166290.2:c.*72_*88dup	NP_001159762.1:n.*72_*88dup
NM_001377296.1:c.*72_*88dup	NP_001364225.1:n.*72_*88dup
NM_001377297.1:c.*72_*88dup	NP_001364226.1:n.*72_*88dup
NM_000525.4:c.*72_*88dup MANE Select	NP_000516.3:n.*72_*88dup