Canonical Allele Identifier: CA2742458399

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022501_11022502insACACCCAACA , CM000663.2:g.11022501_11022502insACACCCAACA	GRCh38
NC_000001.10:g.11082558_11082559insACACCCAACA , CM000663.1:g.11082558_11082559insACACCCAACA	GRCh37
NC_000001.9:g.11005145_11005146insACACCCAACA	NCBI36
NG_008734.1:g.14880_14881insACACCCAACA , LRG_659:g.14880_14881insACACCCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-309_1397-308insTGTTGGGTGT (MASP2)	ENSP00000514787.1:n.1397-309_1397-308insTGTTGGGTGT
ENST00000240185.8:c.1092_1093insACACCCAACA (TARDBP) MANE Select	ENSP00000240185.4:p.Gln365ThrfsTer11
ENST00000639083.1:c.1092_1093insACACCCAACA (TARDBP)	ENSP00000491203.1:p.Gln365ThrfsTer11
ENST00000639599.1:c.832+260_832+261insACACCCAACA (TARDBP)	ENSP00000492196.1:n.832+260_832+261insACACCCAACA
ENST00000649624.1:c.768+324_768+325insACACCCAACA (TARDBP)	ENSP00000497327.1:n.768+324_768+325insACACCCAACA
ENST00000240185.7:c.1092_1093insACACCCAACA (TARDBP)	ENSP00000240185.3:p.Gln365ThrfsTer11
ENST00000315091.7:c.832+260_832+261insACACCCAACA (TARDBP)	ENSP00000313129.3:n.832+260_832+261insACACCCAACA
ENST00000439080.6:c.*673_*674insACACCCAACA (TARDBP)	ENSP00000404666.3:n.*673_*674insACACCCAACA
ENST00000473869.5:c.841+251_841+252insACACCCAACA (TARDBP)	ENSP00000432132.1:n.841+251_841+252insACACCCAACA
ENST00000477447.6:c.140+251_140+252insACACCCAACA (TARDBP)
ENST00000610369.4:c.319+251_319+252insACACCCAACA (TARDBP)	ENSP00000482559.1:n.319+251_319+252insACACCCAACA
ENST00000611136.4:c.212+260_212+261insACACCCAACA
ENST00000611963.4:c.472+260_472+261insACACCCAACA (TARDBP)	ENSP00000481330.1:n.472+260_472+261insACACCCAACA
ENST00000612542.1:c.107+251_107+252insACACCCAACA
ENST00000614494.1:c.221+324_221+325insACACCCAACA (TARDBP)
ENST00000614757.4:c.841+251_841+252insACACCCAACA	ENSP00000481867.1:n.841+251_841+252insACACCCAACA
ENST00000616545.4:c.841+251_841+252insACACCCAACA (TARDBP)	ENSP00000484722.1:n.841+251_841+252insACACCCAACA
ENST00000617172.4:c.582+251_582+252insACACCCAACA (TARDBP)
ENST00000619555.4:c.392+251_392+252insACACCCAACA (TARDBP)
ENST00000620505.1:c.194_195insACACCCAACA (TARDBP)
ENST00000620632.4:c.392+251_392+252insACACCCAACA (TARDBP)
ENST00000621790.4:c.859+233_859+234insACACCCAACA (TARDBP)	ENSP00000482191.1:n.859+233_859+234insACACCCAACA
ENST00000622057.4:c.579+260_579+261insACACCCAACA (TARDBP)
ENST00000629725.2:c.841+251_841+252insACACCCAACA (TARDBP)	ENSP00000486989.1:n.841+251_841+252insACACCCAACA
NM_007375.3:c.1092_1093insACACCCAACA , LRG_659t1:c.1092_1093insACACCCAACA (TARDBP)	NP_031401.1:p.Gln365ThrfsTer11
XR_946596.1:n.1214_1215insACACCCAACA (TARDBP)
XR_946597.1:n.1214_1215insACACCCAACA (TARDBP)
XM_017000863.2:c.1092_1093insACACCCAACA (TARDBP)	XP_016856352.1:p.Gln365ThrfsTer11
XM_017000864.2:c.1092_1093insACACCCAACA (TARDBP)	XP_016856353.1:p.Gln365ThrfsTer11
XM_017000865.2:c.1092_1093insACACCCAACA (TARDBP)	XP_016856354.1:p.Gln365ThrfsTer11
XM_017000866.2:c.1092_1093insACACCCAACA (TARDBP)	XP_016856355.1:p.Gln365ThrfsTer11
XM_017000867.2:c.1092_1093insACACCCAACA (TARDBP)	XP_016856356.1:p.Gln365ThrfsTer11
XM_017000868.2:c.1092_1093insACACCCAACA (TARDBP)	XP_016856357.1:p.Gln365ThrfsTer11
NM_007375.4:c.1092_1093insACACCCAACA (TARDBP) MANE Select	NP_031401.1:p.Gln365ThrfsTer11