Canonical Allele Identifier: CA2739292538

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022652_11022657delinsATCGATG , CM000663.2:g.11022652_11022657delinsATCGATG	GRCh38
NC_000001.10:g.11082709_11082714delinsATCGATG , CM000663.1:g.11082709_11082714delinsATCGATG	GRCh37
NC_000001.9:g.11005296_11005301delinsATCGATG	NCBI36
NG_008734.1:g.15031_15036delinsATCGATG , LRG_659:g.15031_15036delinsATCGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-464_1397-459delinsCATCGAT (MASP2)	ENSP00000514787.1:n.1397-464_1397-459delinsCATCGAT
ENST00000240185.8:c.1243_*3delinsATCGATG (TARDBP) MANE Select	ENSP00000240185.4:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23...
ENST00000639083.1:c.1243_*3delinsATCGATG (TARDBP)	ENSP00000491203.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23...
ENST00000639599.1:c.832+411_832+416delinsATCGATG (TARDBP)	ENSP00000492196.1:n.832+411_832+416delinsATCGATG
ENST00000649624.1:c.768+475_768+480delinsATCGATG (TARDBP)	ENSP00000497327.1:n.768+475_768+480delinsATCGATG
ENST00000240185.7:c.1243_*3delinsATCGATG (TARDBP)	ENSP00000240185.3:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23...
ENST00000315091.7:c.832+411_832+416delinsATCGATG (TARDBP)	ENSP00000313129.3:n.832+411_832+416delinsATCGATG
ENST00000439080.6:c.*824_*829delinsATCGATG (TARDBP)	ENSP00000404666.3:n.*824_*829delinsATCGATG
ENST00000473869.5:c.841+402_841+407delinsATCGATG (TARDBP)	ENSP00000432132.1:n.841+402_841+407delinsATCGATG
ENST00000477447.6:c.140+402_140+407delinsATCGATG (TARDBP)
ENST00000610369.4:c.319+402_319+407delinsATCGATG (TARDBP)	ENSP00000482559.1:n.319+402_319+407delinsATCGATG
ENST00000611136.4:c.212+411_212+416delinsATCGATG
ENST00000611963.4:c.472+411_472+416delinsATCGATG (TARDBP)	ENSP00000481330.1:n.472+411_472+416delinsATCGATG
ENST00000612542.1:c.107+402_107+407delinsATCGATG
ENST00000614494.1:c.221+475_221+480delinsATCGATG (TARDBP)
ENST00000614757.4:c.841+402_841+407delinsATCGATG	ENSP00000481867.1:n.841+402_841+407delinsATCGATG
ENST00000616545.4:c.841+402_841+407delinsATCGATG (TARDBP)	ENSP00000484722.1:n.841+402_841+407delinsATCGATG
ENST00000617172.4:c.582+402_582+407delinsATCGATG (TARDBP)
ENST00000619555.4:c.392+402_392+407delinsATCGATG (TARDBP)
ENST00000620505.1:c.345_350delinsATCGATG (TARDBP)
ENST00000620632.4:c.392+402_392+407delinsATCGATG (TARDBP)
ENST00000621573.1:c.105_110delinsATCGATG (TARDBP)
ENST00000621790.4:c.859+384_859+389delinsATCGATG (TARDBP)	ENSP00000482191.1:n.859+384_859+389delinsATCGATG
ENST00000622057.4:c.579+411_579+416delinsATCGATG (TARDBP)
ENST00000629725.2:c.841+402_841+407delinsATCGATG (TARDBP)	ENSP00000486989.1:n.841+402_841+407delinsATCGATG
NM_007375.3:c.1243_*3delinsATCGATG , LRG_659t1:c.1243_*3delinsATCGATG (TARDBP)	NP_031401.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23]
XR_946596.1:n.1365_1370delinsATCGATG (TARDBP)
XR_946597.1:n.1365_1370delinsATCGATG (TARDBP)
XM_017000863.2:c.1243_*3delinsATCGATG (TARDBP)	XP_016856352.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23]
XM_017000864.2:c.1243_*3delinsATCGATG (TARDBP)	XP_016856353.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23]
XM_017000865.2:c.1243_*3delinsATCGATG (TARDBP)	XP_016856354.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23]
XM_017000866.2:c.1243_*3delinsATCGATG (TARDBP)	XP_016856355.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23]
XM_017000867.2:c.1243_*3delinsATCGATG (TARDBP)	XP_016856356.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23]
XM_017000868.2:c.1243_*3delinsATCGATG (TARDBP)	XP_016856357.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23]
NM_007375.4:c.1243_*3delinsATCGATG (TARDBP) MANE Select	NP_031401.1:n.[c.1243_*3delinsATCGATG;Ter415IleextTer23]