Canonical Allele Identifier: CA2612640264

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17388186-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388189_17388190del , CM000673.2:g.17388189_17388190del	GRCh38
NC_000011.9:g.17409736_17409737del , CM000673.1:g.17409736_17409737del	GRCh37
NC_000011.8:g.17366312_17366313del	NCBI36
NG_012446.1:g.5472_5473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-213-112_-213-111del	ENSP00000436479.2:n.-213-112_-213-111del
ENST00000682350.1:c.-16-342_-16-341del	ENSP00000508090.1:n.-16-342_-16-341del
ENST00000682764.1:c.-16-342_-16-341del	ENSP00000506780.1:n.-16-342_-16-341del
ENST00000339994.5:c.-97_-96del MANE Select	ENSP00000345708.4:n.-97_-96del
ENST00000339994.4:c.-97_-96del	ENSP00000345708.4:n.-97_-96del
ENST00000526912.1:c.-75-112_-75-111del	ENSP00000432729.1:n.-75-112_-75-111del
ENST00000528731.1:c.-16-342_-16-341del	ENSP00000434755.1:n.-16-342_-16-341del
ENST00000528992.1:c.33-112_33-111del
NM_000525.3:c.-97_-96del	NP_000516.3:n.-97_-96del
NM_001166290.1:c.-16-342_-16-341del	NP_001159762.1:n.-16-342_-16-341del
XM_006718226.2:c.-16-342_-16-341del	XP_006718289.1:n.-16-342_-16-341del
XR_930867.1:n.62_63del
XM_006718226.3:c.-16-342_-16-341del	XP_006718289.1:n.-16-342_-16-341del
XM_017017680.1:c.-16-342_-16-341del	XP_016873169.1:n.-16-342_-16-341del
NM_001166290.2:c.-16-342_-16-341del	NP_001159762.1:n.-16-342_-16-341del
NM_001377296.1:c.-75-112_-75-111del	NP_001364225.1:n.-75-112_-75-111del
NM_001377297.1:c.-16-342_-16-341del	NP_001364226.1:n.-16-342_-16-341del
NM_000525.4:c.-97_-96del MANE Select	NP_000516.3:n.-97_-96del