Canonical Allele Identifier: CA1139661844

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 947372
• ClinVar RCV Id: RCV001218438 ; RCV001828735 ; RCV002227255
• dbSNP Id: rs1953591118
• gnomAD v4: 11-17387933-GCCCTGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387937_17387943del , CM000673.2:g.17387937_17387943del	GRCh38
NC_000011.9:g.17409484_17409490del , CM000673.1:g.17409484_17409490del	GRCh37
NC_000011.8:g.17366060_17366066del	NCBI36
NG_012446.1:g.5720_5726del

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-77_-71del	ENSP00000436479.2:n.-77_-71del
ENST00000682350.1:c.-16-94_-16-88del	ENSP00000508090.1:n.-16-94_-16-88del
ENST00000682764.1:c.-16-94_-16-88del	ENSP00000506780.1:n.-16-94_-16-88del
ENST00000339994.5:c.152_158del MANE Select	ENSP00000345708.4:p.Glu51AlafsTer?
ENST00000339994.4:c.152_158del	ENSP00000345708.4:p.Glu51AlafsTer?
ENST00000526912.1:c.-17+78_-17+84del	ENSP00000432729.1:n.-17+78_-17+84del
ENST00000528731.1:c.-16-94_-16-88del	ENSP00000434755.1:n.-16-94_-16-88del
ENST00000528992.1:c.169_175del
NM_000525.3:c.152_158del	NP_000516.3:p.Glu51AlafsTer?
NM_001166290.1:c.-16-94_-16-88del	NP_001159762.1:n.-16-94_-16-88del
XM_006718226.2:c.-16-94_-16-88del	XP_006718289.1:n.-16-94_-16-88del
XR_930867.1:n.310_316del
XM_006718226.3:c.-16-94_-16-88del	XP_006718289.1:n.-16-94_-16-88del
XM_017017680.1:c.-16-94_-16-88del	XP_016873169.1:n.-16-94_-16-88del
NM_001166290.2:c.-16-94_-16-88del	NP_001159762.1:n.-16-94_-16-88del
NM_001377296.1:c.-17+78_-17+84del	NP_001364225.1:n.-17+78_-17+84del
NM_001377297.1:c.-16-94_-16-88del	NP_001364226.1:n.-16-94_-16-88del
NM_000525.4:c.152_158del MANE Select	NP_000516.3:p.Glu51AlafsTer?