Canonical Allele Identifier: CA3062864581
Community Standard Title: NM_000525.4(KCNJ11):c.1117_1123delinsT (p.Val373_Met375delinsLeu)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386969_17386975delinsA , CM000673.2:g.17386969_17386975delinsA GRCh38
NC_000011.9:g.17408516_17408522delinsA , CM000673.1:g.17408516_17408522delinsA GRCh37
NC_000011.8:g.17365092_17365098delinsA NCBI36
NG_012446.1:g.6685_6691delinsT

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.1117_1123delinsT MANE Select NP_000516.3:p.Val373_Met375delinsLeu
ENST00000339994.5:c.1117_1123delinsT MANE Select ENSP00000345708.4:p.Val373_Met375delinsLeu
NM_000525.3:c.1117_1123delinsT NP_000516.3:p.Val373_Met375delinsLeu
NM_001166290.1:c.856_862delinsT NP_001159762.1:p.Val286_Met288delinsLeu
NM_001166290.2:c.856_862delinsT NP_001159762.1:p.Val286_Met288delinsLeu
NM_001377296.1:c.856_862delinsT NP_001364225.1:p.Val286_Met288delinsLeu
NM_001377297.1:c.856_862delinsT NP_001364226.1:p.Val286_Met288delinsLeu
ENST00000339994.4:c.1117_1123delinsT ENSP00000345708.4:p.Val373_Met375delinsLeu
ENST00000528731.1:c.856_862delinsT ENSP00000434755.1:p.Val286_Met288delinsLeu
ENST00000682350.1:c.856_862delinsT ENSP00000508090.1:p.Val286_Met288delinsLeu
ENST00000682764.1:c.856_862delinsT ENSP00000506780.1:p.Val286_Met288delinsLeu
XM_006718226.2:c.856_862delinsT XP_006718289.1:p.Val286_Met288delinsLeu
XM_006718226.3:c.856_862delinsT XP_006718289.1:p.Val286_Met288delinsLeu
XM_017017680.1:c.856_862delinsT XP_016873169.1:p.Val286_Met288delinsLeu
XR_930867.1:n.1275_1281delinsT