Canonical Allele Identifier: CA2612638005

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17386830-TGGCCCAGCCTCACACCAGGCCCTGGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386833_17386859del , CM000673.2:g.17386833_17386859del	GRCh38
NC_000011.9:g.17408380_17408406del , CM000673.1:g.17408380_17408406del	GRCh37
NC_000011.8:g.17364956_17364982del	NCBI36
NG_012446.1:g.6803_6829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*62_*88del	ENSP00000508090.1:n.*62_*88del
ENST00000682764.1:c.*50+12_*50+38del	ENSP00000506780.1:n.*50+12_*50+38del
ENST00000339994.5:c.*62_*88del MANE Select	ENSP00000345708.4:n.*62_*88del
ENST00000339994.4:c.*62_*88del	ENSP00000345708.4:n.*62_*88del
ENST00000528731.1:c.*62_*88del	ENSP00000434755.1:n.*62_*88del
NM_000525.3:c.*62_*88del	NP_000516.3:n.*62_*88del
NM_001166290.1:c.*62_*88del	NP_001159762.1:n.*62_*88del
XM_006718226.2:c.*62_*88del	XP_006718289.1:n.*62_*88del
XR_930867.1:n.1381+12_1381+38del
XM_006718226.3:c.*62_*88del	XP_006718289.1:n.*62_*88del
XM_017017680.1:c.*62_*88del	XP_016873169.1:n.*62_*88del
NM_001166290.2:c.*62_*88del	NP_001159762.1:n.*62_*88del
NM_001377296.1:c.*62_*88del	NP_001364225.1:n.*62_*88del
NM_001377297.1:c.*62_*88del	NP_001364226.1:n.*62_*88del
NM_000525.4:c.*62_*88del MANE Select	NP_000516.3:n.*62_*88del