Canonical Allele Identifier: CA1153469169

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027550_11027555delinsTTCCAC , CM000663.2:g.11027550_11027555delinsTTCCAC	GRCh38
NC_000001.10:g.11087607_11087612delinsTTCCAC , CM000663.1:g.11087607_11087612delinsTTCCAC	GRCh37
NC_000001.9:g.11010194_11010199delinsTTCCAC	NCBI36
NG_007289.1:g.24674_24679delinsGTGGAA
NG_007289.2:g.24674_24679delinsGTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.330_335delinsGTGGAA (MASP2)
ENST00000699958.1:c.1286_1291delinsGTGGAA (MASP2)	ENSP00000514717.1:p.Gly429=
ENST00000700088.1:c.1298-707_1298-702delinsGTGGAA (MASP2)	ENSP00000514787.1:n.1298-707_1298-702delinsGTGGAA
ENST00000700089.1:c.1388_1393delinsGTGGAA (MASP2)	ENSP00000514788.1:n.1388_1393delinsGTGGAA
ENST00000700090.1:c.1270_1275delinsGTGGAA (MASP2)	ENSP00000514789.1:n.1270_1275delinsGTGGAA
ENST00000700091.1:c.1193_1198delinsGTGGAA (MASP2)	ENSP00000514790.1:p.Gly398=
ENST00000700092.1:c.1370_1375delinsGTGGAA (MASP2)	ENSP00000514791.1:p.Gly457=
ENST00000700093.1:c.1367_1372delinsGTGGAA (MASP2)	ENSP00000514792.1:p.Gly456=
ENST00000700094.1:c.1399_1404delinsGTGGAA (MASP2)	ENSP00000514793.1:n.1399_1404delinsGTGGAA
ENST00000700095.1:c.1298-707_1298-702delinsGTGGAA (MASP2)	ENSP00000514794.1:n.1298-707_1298-702delinsGTGGAA
ENST00000700096.1:c.1101-707_1101-702delinsGTGGAA (MASP2)	ENSP00000514795.1:n.1101-707_1101-702delinsGTGGAA
ENST00000700097.1:c.1419_1424delinsGTGGAA (MASP2)	ENSP00000514796.1:n.1419_1424delinsGTGGAA
ENST00000400897.8:c.1391_1396delinsGTGGAA (MASP2) MANE Select	ENSP00000383690.3:p.Gly464=
ENST00000400897.7:c.1391_1396delinsGTGGAA (MASP2)	ENSP00000383690.3:p.Gly464=
ENST00000611136.4:c.448+2342_448+2347delinsTTCCAC
ENST00000612542.1:c.206+2342_206+2347delinsTTCCAC
ENST00000614757.4:c.*452+2342_*452+2347delinsTTCCAC	ENSP00000481867.1:n.*452+2342_*452+2347delinsTTCCAC
ENST00000620028.1:n.416+2342_416+2347delinsTTCCAC
ENST00000622108.1:c.232-2137_232-2132delinsTTCCAC	ENSP00000480398.1:n.232-2137_232-2132delinsTTCCAC
NM_006610.3:c.1391_1396delinsGTGGAA (MASP2)	NP_006601.2:p.Gly464=
XM_017000863.2:c.*3011+1885_*3011+1890delinsTTCCAC (TARDBP)	XP_016856352.1:n.*3011+1885_*3011+1890delinsTTCCAC
XM_017000864.2:c.*1895+1885_*1895+1890delinsTTCCAC (TARDBP)	XP_016856353.1:n.*1895+1885_*1895+1890delinsTTCCAC
XM_017000865.2:c.*1781-2137_*1781-2132delinsTTCCAC (TARDBP)	XP_016856354.1:n.*1781-2137_*1781-2132delinsTTCCAC
NM_006610.4:c.1391_1396delinsGTGGAA (MASP2) MANE Select	NP_006601.2:p.Gly464=