Canonical Allele Identifier: CA1820664622
Gene: KCNQ3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175724_132175731delinsAATCACTC , CM000670.2:g.132175724_132175731delinsAATCACTC GRCh38
NC_000008.10:g.133187971_133187978delinsAATCACTC , CM000670.1:g.133187971_133187978delinsAATCACTC GRCh37
NC_000008.9:g.133257153_133257160delinsAATCACTC NCBI36
NG_008854.2:g.310027_310034delinsGAGTGATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.778-123_778-116delinsGAGTGATT MANE Select ENSP00000373648.3:n.778-123_778-116delinsGAGTGATT
ENST00000521134.6:c.418-123_418-116delinsGAGTGATT ENSP00000429799.1:n.418-123_418-116delinsGAGTGATT
ENST00000638588.1:c.451-123_451-116delinsGAGTGATT ENSP00000491940.1:n.451-123_451-116delinsGAGTGATT
ENST00000639358.1:c.428-123_428-116delinsGAGTGATT
ENST00000639496.1:c.451-123_451-116delinsGAGTGATT ENSP00000491165.1:n.451-123_451-116delinsGAGTGATT
ENST00000388996.8:c.778-123_778-116delinsGAGTGATT ENSP00000373648.3:n.778-123_778-116delinsGAGTGATT
ENST00000519445.5:c.778-123_778-116delinsGAGTGATT ENSP00000428790.1:n.778-123_778-116delinsGAGTGATT
ENST00000519589.1:n.556-123_556-116delinsGAGTGATT
ENST00000521134.5:c.418-123_418-116delinsGAGTGATT ENSP00000429799.1:n.418-123_418-116delinsGAGTGATT
ENST00000621976.1:c.415-123_415-116delinsGAGTGATT ENSP00000482510.1:n.415-123_415-116delinsGAGTGATT
NM_001204824.1:c.418-123_418-116delinsGAGTGATT NP_001191753.1:n.418-123_418-116delinsGAGTGATT
NM_004519.3:c.778-123_778-116delinsGAGTGATT NP_004510.1:n.778-123_778-116delinsGAGTGATT
XM_005250914.2:c.-379-123_-379-116delinsGAGTGATT XP_005250971.1:n.-379-123_-379-116delinsGAGTGATT
XM_006716555.2:c.70-123_70-116delinsGAGTGATT XP_006716618.1:n.70-123_70-116delinsGAGTGATT
XM_011517026.1:c.418-123_418-116delinsGAGTGATT XP_011515328.1:n.418-123_418-116delinsGAGTGATT
XM_005250914.3:c.-379-123_-379-116delinsGAGTGATT XP_005250971.1:n.-379-123_-379-116delinsGAGTGATT
XM_006716555.3:c.70-123_70-116delinsGAGTGATT XP_006716618.1:n.70-123_70-116delinsGAGTGATT
XM_011517026.2:c.418-123_418-116delinsGAGTGATT XP_011515328.1:n.418-123_418-116delinsGAGTGATT
XM_017013400.1:c.556-123_556-116delinsGAGTGATT XP_016868889.1:n.556-123_556-116delinsGAGTGATT
NM_004519.4:c.778-123_778-116delinsGAGTGATT MANE Select NP_004510.1:n.778-123_778-116delinsGAGTGATT
NM_001204824.2:c.418-123_418-116delinsGAGTGATT NP_001191753.1:n.418-123_418-116delinsGAGTGATT