Canonical Allele Identifier: CA1423682085

Gene: KCNMB3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243082_179243083delinsAG , CM000665.2:g.179243082_179243083delinsAG	GRCh38
NC_000003.11:g.178960870_178960871delinsAG , CM000665.1:g.178960870_178960871delinsAG	GRCh37
NC_000003.10:g.180443564_180443565delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.649_650delinsCT MANE Select	ENSP00000376451.2:p.Leu217=
ENST00000314235.9:c.661_662delinsCT	ENSP00000319370.5:p.Leu221=
ENST00000349697.2:c.655_656delinsCT	ENSP00000327866.2:p.Leu219=
ENST00000392685.6:c.649_650delinsCT	ENSP00000376451.2:p.Leu217=
ENST00000392686.6:c.595_596delinsCT	ENSP00000376452.2:p.Leu199=
ENST00000485523.5:c.595_596delinsCT	ENSP00000418536.1:p.Leu199=
ENST00000486944.2:c.152+50_152+51delinsCT	ENSP00000479162.1:n.152+50_152+51delinsCT
ENST00000497599.5:c.453+1412_453+1413delinsCT	ENSP00000417091.1:n.453+1412_453+1413delinsCT
NM_001163677.1:c.453+1412_453+1413delinsCT	NP_001157149.1:n.453+1412_453+1413delinsCT
NM_014407.3:c.661_662delinsCT	NP_055222.3:p.Leu221=
NM_171828.2:c.655_656delinsCT	NP_741979.1:p.Leu219=
NM_171829.2:c.595_596delinsCT	NP_741980.1:p.Leu199=
NM_171830.1:c.649_650delinsCT	NP_741981.1:p.Leu217=
NR_028135.1:n.1537_1538delinsCT
NM_001163677.2:c.453+1412_453+1413delinsCT	NP_001157149.1:n.453+1412_453+1413delinsCT
NM_171828.3:c.655_656delinsCT	NP_741979.1:p.Leu219=
NM_171829.3:c.595_596delinsCT	NP_741980.1:p.Leu199=
NR_028135.2:n.1537_1538delinsCT
NM_171830.2:c.649_650delinsCT MANE Select	NP_741981.1:p.Leu217=