Canonical Allele Identifier: CA2586966078

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022561_11022571del , CM000663.2:g.11022561_11022571del	GRCh38
NC_000001.10:g.11082618_11082628del , CM000663.1:g.11082618_11082628del	GRCh37
NC_000001.9:g.11005205_11005215del	NCBI36
NG_008734.1:g.14940_14950del , LRG_659:g.14940_14950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-377_1397-367del (MASP2)	ENSP00000514787.1:n.1397-377_1397-367del
ENST00000240185.8:c.1152_1162del (TARDBP) MANE Select	ENSP00000240185.4:p.Trp385IlefsTer10
ENST00000639083.1:c.1152_1162del (TARDBP)	ENSP00000491203.1:p.Trp385IlefsTer10
ENST00000639599.1:c.832+320_832+330del (TARDBP)	ENSP00000492196.1:n.832+320_832+330del
ENST00000649624.1:c.768+384_768+394del (TARDBP)	ENSP00000497327.1:n.768+384_768+394del
ENST00000240185.7:c.1152_1162del (TARDBP)	ENSP00000240185.3:p.Trp385IlefsTer10
ENST00000315091.7:c.832+320_832+330del (TARDBP)	ENSP00000313129.3:n.832+320_832+330del
ENST00000439080.6:c.*733_*743del (TARDBP)	ENSP00000404666.3:n.*733_*743del
ENST00000473869.5:c.841+311_841+321del (TARDBP)	ENSP00000432132.1:n.841+311_841+321del
ENST00000477447.6:c.140+311_140+321del (TARDBP)
ENST00000610369.4:c.319+311_319+321del (TARDBP)	ENSP00000482559.1:n.319+311_319+321del
ENST00000611136.4:c.212+320_212+330del
ENST00000611963.4:c.472+320_472+330del (TARDBP)	ENSP00000481330.1:n.472+320_472+330del
ENST00000612542.1:c.107+311_107+321del
ENST00000614494.1:c.221+384_221+394del (TARDBP)
ENST00000614757.4:c.841+311_841+321del	ENSP00000481867.1:n.841+311_841+321del
ENST00000616545.4:c.841+311_841+321del (TARDBP)	ENSP00000484722.1:n.841+311_841+321del
ENST00000617172.4:c.582+311_582+321del (TARDBP)
ENST00000619555.4:c.392+311_392+321del (TARDBP)
ENST00000620505.1:c.254_264del (TARDBP)
ENST00000620632.4:c.392+311_392+321del (TARDBP)
ENST00000621573.1:c.14_24del (TARDBP)
ENST00000621790.4:c.859+293_859+303del (TARDBP)	ENSP00000482191.1:n.859+293_859+303del
ENST00000622057.4:c.579+320_579+330del (TARDBP)
ENST00000629725.2:c.841+311_841+321del (TARDBP)	ENSP00000486989.1:n.841+311_841+321del
NM_007375.3:c.1152_1162del , LRG_659t1:c.1152_1162del (TARDBP)	NP_031401.1:p.Trp385IlefsTer10
XR_946596.1:n.1274_1284del (TARDBP)
XR_946597.1:n.1274_1284del (TARDBP)
XM_017000863.2:c.1152_1162del (TARDBP)	XP_016856352.1:p.Trp385IlefsTer10
XM_017000864.2:c.1152_1162del (TARDBP)	XP_016856353.1:p.Trp385IlefsTer10
XM_017000865.2:c.1152_1162del (TARDBP)	XP_016856354.1:p.Trp385IlefsTer10
XM_017000866.2:c.1152_1162del (TARDBP)	XP_016856355.1:p.Trp385IlefsTer10
XM_017000867.2:c.1152_1162del (TARDBP)	XP_016856356.1:p.Trp385IlefsTer10
XM_017000868.2:c.1152_1162del (TARDBP)	XP_016856357.1:p.Trp385IlefsTer10
NM_007375.4:c.1152_1162del (TARDBP) MANE Select	NP_031401.1:p.Trp385IlefsTer10