Canonical Allele Identifier: CA597904296

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1458997267
• gnomAD v2: 11-17409668-CCCCATCGGAGGCA-C
• gnomAD v3: 11-17388121-CCCCATCGGAGGCA-C
• gnomAD v4: 11-17388121-CCCCATCGGAGGCA-C
• MyVariant Identifiers: chr11:g.17409669_17409681del (hg19) ; chr11:g.17388122_17388134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388125_17388137del , CM000673.2:g.17388125_17388137del	GRCh38
NC_000011.9:g.17409672_17409684del , CM000673.1:g.17409672_17409684del	GRCh37
NC_000011.8:g.17366248_17366260del	NCBI36
NG_012446.1:g.5526_5538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-213-58_-213-46del	ENSP00000436479.2:n.-213-58_-213-46del
ENST00000682350.1:c.-16-288_-16-276del	ENSP00000508090.1:n.-16-288_-16-276del
ENST00000682764.1:c.-16-288_-16-276del	ENSP00000506780.1:n.-16-288_-16-276del
ENST00000339994.5:c.-43_-31del MANE Select	ENSP00000345708.4:n.-43_-31del
ENST00000339994.4:c.-43_-31del	ENSP00000345708.4:n.-43_-31del
ENST00000526912.1:c.-75-58_-75-46del	ENSP00000432729.1:n.-75-58_-75-46del
ENST00000528731.1:c.-16-288_-16-276del	ENSP00000434755.1:n.-16-288_-16-276del
ENST00000528992.1:c.33-58_33-46del
NM_000525.3:c.-43_-31del	NP_000516.3:n.-43_-31del
NM_001166290.1:c.-16-288_-16-276del	NP_001159762.1:n.-16-288_-16-276del
XM_006718226.2:c.-16-288_-16-276del	XP_006718289.1:n.-16-288_-16-276del
XR_930867.1:n.116_128del
XM_006718226.3:c.-16-288_-16-276del	XP_006718289.1:n.-16-288_-16-276del
XM_017017680.1:c.-16-288_-16-276del	XP_016873169.1:n.-16-288_-16-276del
NM_001166290.2:c.-16-288_-16-276del	NP_001159762.1:n.-16-288_-16-276del
NM_001377296.1:c.-75-58_-75-46del	NP_001364225.1:n.-75-58_-75-46del
NM_001377297.1:c.-16-288_-16-276del	NP_001364226.1:n.-16-288_-16-276del
NM_000525.4:c.-43_-31del MANE Select	NP_000516.3:n.-43_-31del