Canonical Allele Identifier: CA1153490087

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022214_11022218delinsCAGTT , CM000663.2:g.11022214_11022218delinsCAGTT	GRCh38
NC_000001.10:g.11082271_11082275delinsCAGTT , CM000663.1:g.11082271_11082275delinsCAGTT	GRCh37
NC_000001.9:g.11004858_11004862delinsCAGTT	NCBI36
NG_008734.1:g.14593_14597delinsCAGTT , LRG_659:g.14593_14597delinsCAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-25_1397-21delinsAACTG (MASP2)	ENSP00000514787.1:n.1397-25_1397-21delinsAACTG
ENST00000240185.8:c.805_809delinsCAGTT (TARDBP) MANE Select	ENSP00000240185.4:p.Gln269=
ENST00000639083.1:c.805_809delinsCAGTT (TARDBP)	ENSP00000491203.1:p.Gln269=
ENST00000639599.1:c.805_809delinsCAGTT (TARDBP)	ENSP00000492196.1:p.Gln269=
ENST00000649624.1:c.768+37_768+41delinsCAGTT (TARDBP)	ENSP00000497327.1:n.768+37_768+41delinsCAGTT
ENST00000240185.7:c.805_809delinsCAGTT (TARDBP)	ENSP00000240185.3:p.Gln269=
ENST00000315091.7:c.805_809delinsCAGTT (TARDBP)	ENSP00000313129.3:p.Gln269=
ENST00000439080.6:c.*386_*390delinsCAGTT (TARDBP)	ENSP00000404666.3:n.*386_*390delinsCAGTT
ENST00000473869.5:c.805_809delinsCAGTT (TARDBP)	ENSP00000432132.1:p.Gln269=
ENST00000477447.6:c.104_108delinsCAGTT (TARDBP)
ENST00000610369.4:c.283_287delinsCAGTT (TARDBP)	ENSP00000482559.1:p.Gln95=
ENST00000611136.4:c.185_189delinsCAGTT
ENST00000611963.4:c.445_449delinsCAGTT (TARDBP)	ENSP00000481330.1:p.Gln149=
ENST00000612542.1:c.71_75delinsCAGTT
ENST00000614494.1:c.221+37_221+41delinsCAGTT (TARDBP)
ENST00000614757.4:c.805_809delinsCAGTT	ENSP00000481867.1:p.Gln269=
ENST00000616545.4:c.805_809delinsCAGTT (TARDBP)	ENSP00000484722.1:p.Gln269=
ENST00000617172.4:c.546_550delinsCAGTT (TARDBP)
ENST00000619555.4:c.356_360delinsCAGTT (TARDBP)
ENST00000620632.4:c.356_360delinsCAGTT (TARDBP)
ENST00000621715.4:c.634_638delinsCAGTT (TARDBP)	ENSP00000480690.1:p.Gln212=
ENST00000621790.4:c.805_809delinsCAGTT (TARDBP)	ENSP00000482191.1:p.Gln269=
ENST00000622057.4:c.552_556delinsCAGTT (TARDBP)
ENST00000629725.2:c.805_809delinsCAGTT (TARDBP)	ENSP00000486989.1:p.Gln269=
NM_007375.3:c.805_809delinsCAGTT , LRG_659t1:c.805_809delinsCAGTT (TARDBP)	NP_031401.1:p.Gln269=
XR_946596.1:n.927_931delinsCAGTT (TARDBP)
XR_946597.1:n.927_931delinsCAGTT (TARDBP)
XM_017000863.2:c.805_809delinsCAGTT (TARDBP)	XP_016856352.1:p.Gln269=
XM_017000864.2:c.805_809delinsCAGTT (TARDBP)	XP_016856353.1:p.Gln269=
XM_017000865.2:c.805_809delinsCAGTT (TARDBP)	XP_016856354.1:p.Gln269=
XM_017000866.2:c.805_809delinsCAGTT (TARDBP)	XP_016856355.1:p.Gln269=
XM_017000867.2:c.805_809delinsCAGTT (TARDBP)	XP_016856356.1:p.Gln269=
XM_017000868.2:c.805_809delinsCAGTT (TARDBP)	XP_016856357.1:p.Gln269=
NM_007375.4:c.805_809delinsCAGTT (TARDBP) MANE Select	NP_031401.1:p.Gln269=