Canonical Allele Identifier: CA2017997755

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022567_11022568delinsCACCAACC , CM000663.2:g.11022567_11022568delinsCACCAACC	GRCh38
NC_000001.10:g.11082624_11082625delinsCACCAACC , CM000663.1:g.11082624_11082625delinsCACCAACC	GRCh37
NC_000001.9:g.11005211_11005212delinsCACCAACC	NCBI36
NG_008734.1:g.14946_14947delinsCACCAACC , LRG_659:g.14946_14947delinsCACCAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-375_1397-374delinsGGTTGGTG (MASP2)	ENSP00000514787.1:n.1397-375_1397-374delinsGGTTGGTG
ENST00000240185.8:c.1158_1159delinsCACCAACC (TARDBP) MANE Select	ENSP00000240185.4:p.Ser387delinsThrAsnPro
ENST00000639083.1:c.1158_1159delinsCACCAACC (TARDBP)	ENSP00000491203.1:p.Ser387delinsThrAsnPro
ENST00000639599.1:c.832+326_832+327delinsCACCAACC (TARDBP)	ENSP00000492196.1:n.832+326_832+327delinsCACCAACC
ENST00000649624.1:c.768+390_768+391delinsCACCAACC (TARDBP)	ENSP00000497327.1:n.768+390_768+391delinsCACCAACC
ENST00000240185.7:c.1158_1159delinsCACCAACC (TARDBP)	ENSP00000240185.3:p.Ser387delinsThrAsnPro
ENST00000315091.7:c.832+326_832+327delinsCACCAACC (TARDBP)	ENSP00000313129.3:n.832+326_832+327delinsCACCAACC
ENST00000439080.6:c.*739_*740delinsCACCAACC (TARDBP)	ENSP00000404666.3:n.*739_*740delinsCACCAACC
ENST00000473869.5:c.841+317_841+318delinsCACCAACC (TARDBP)	ENSP00000432132.1:n.841+317_841+318delinsCACCAACC
ENST00000477447.6:c.140+317_140+318delinsCACCAACC (TARDBP)
ENST00000610369.4:c.319+317_319+318delinsCACCAACC (TARDBP)	ENSP00000482559.1:n.319+317_319+318delinsCACCAACC
ENST00000611136.4:c.212+326_212+327delinsCACCAACC
ENST00000611963.4:c.472+326_472+327delinsCACCAACC (TARDBP)	ENSP00000481330.1:n.472+326_472+327delinsCACCAACC
ENST00000612542.1:c.107+317_107+318delinsCACCAACC
ENST00000614494.1:c.221+390_221+391delinsCACCAACC (TARDBP)
ENST00000614757.4:c.841+317_841+318delinsCACCAACC	ENSP00000481867.1:n.841+317_841+318delinsCACCAACC
ENST00000616545.4:c.841+317_841+318delinsCACCAACC (TARDBP)	ENSP00000484722.1:n.841+317_841+318delinsCACCAACC
ENST00000617172.4:c.582+317_582+318delinsCACCAACC (TARDBP)
ENST00000619555.4:c.392+317_392+318delinsCACCAACC (TARDBP)
ENST00000620505.1:c.260_261delinsCACCAACC (TARDBP)
ENST00000620632.4:c.392+317_392+318delinsCACCAACC (TARDBP)
ENST00000621573.1:c.20_21delinsCACCAACC (TARDBP)
ENST00000621790.4:c.859+299_859+300delinsCACCAACC (TARDBP)	ENSP00000482191.1:n.859+299_859+300delinsCACCAACC
ENST00000622057.4:c.579+326_579+327delinsCACCAACC (TARDBP)
ENST00000629725.2:c.841+317_841+318delinsCACCAACC (TARDBP)	ENSP00000486989.1:n.841+317_841+318delinsCACCAACC
NM_007375.3:c.1158_1159delinsCACCAACC , LRG_659t1:c.1158_1159delinsCACCAACC (TARDBP)	NP_031401.1:p.Ser387delinsThrAsnPro
XR_946596.1:n.1280_1281delinsCACCAACC (TARDBP)
XR_946597.1:n.1280_1281delinsCACCAACC (TARDBP)
XM_017000863.2:c.1158_1159delinsCACCAACC (TARDBP)	XP_016856352.1:p.Ser387delinsThrAsnPro
XM_017000864.2:c.1158_1159delinsCACCAACC (TARDBP)	XP_016856353.1:p.Ser387delinsThrAsnPro
XM_017000865.2:c.1158_1159delinsCACCAACC (TARDBP)	XP_016856354.1:p.Ser387delinsThrAsnPro
XM_017000866.2:c.1158_1159delinsCACCAACC (TARDBP)	XP_016856355.1:p.Ser387delinsThrAsnPro
XM_017000867.2:c.1158_1159delinsCACCAACC (TARDBP)	XP_016856356.1:p.Ser387delinsThrAsnPro
XM_017000868.2:c.1158_1159delinsCACCAACC (TARDBP)	XP_016856357.1:p.Ser387delinsThrAsnPro
NM_007375.4:c.1158_1159delinsCACCAACC (TARDBP) MANE Select	NP_031401.1:p.Ser387delinsThrAsnPro