Canonical Allele Identifier: CA2695213252

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387845_17387848dup , CM000673.2:g.17387845_17387848dup	GRCh38
NC_000011.9:g.17409392_17409395dup , CM000673.1:g.17409392_17409395dup	GRCh37
NC_000011.8:g.17365968_17365971dup	NCBI36
NG_012446.1:g.5812_5815dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.16_19dup	ENSP00000436479.2:p.Trp7Ter
ENST00000682350.1:c.-16-2_-15dup
ENST00000682764.1:c.-16-2_-15dup
ENST00000339994.5:c.244_247dup MANE Select	ENSP00000345708.4:p.Trp83Ter
ENST00000339994.4:c.244_247dup	ENSP00000345708.4:p.Trp83Ter
ENST00000526912.1:c.-16-2_-15dup
ENST00000528731.1:c.-16-2_-15dup
ENST00000528992.1:c.261_264dup
NM_000525.3:c.244_247dup	NP_000516.3:p.Trp83Ter
NM_001166290.1:c.-16-2_-15dup
XM_006718226.2:c.-16-2_-15dup
XR_930867.1:n.402_405dup
XM_006718226.3:c.-16-2_-15dup
XM_017017680.1:c.-16-2_-15dup
NM_001166290.2:c.-16-2_-15dup
NM_001377296.1:c.-16-2_-15dup
NM_001377297.1:c.-16-2_-15dup
NM_000525.4:c.244_247dup MANE Select	NP_000516.3:p.Trp83Ter