Canonical Allele Identifier: CA2580070506

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187226464del , CM000665.2:g.187226464del	GRCh38
NC_000003.11:g.186944252del , CM000665.1:g.186944252del	GRCh37
NC_000003.10:g.188426946del	NCBI36
NG_029440.1:g.70559del , LRG_349:g.70559del

Transcript Alleles

HGVS	Amino-acid Change
NM_001879.6:c.1498del MANE Plus Clinical	NP_001870.3:p.Asp500IlefsTer?
ENST00000337774.10:c.1498del MANE Plus Clinical	ENSP00000336792.5:p.Asp500IlefsTer?
NM_001879.5:c.1498del , LRG_349t2:c.1498del	NP_001870.3:p.Asp500IlefsTer?
ENST00000337774.9:c.1498del	ENSP00000336792.5:p.Asp500IlefsTer?
ENST00000468121.1:n.372del
XM_011512990.1:c.1519del	XP_011511292.1:p.Asp507IlefsTer?
XM_011512990.2:c.1519del	XP_011511292.1:p.Asp507IlefsTer?
XM_017006870.2:c.1405del	XP_016862359.1:p.Asp469IlefsTer?
XM_017006871.1:c.1381del	XP_016862360.1:p.Asp461IlefsTer?
XR_001741060.2:n.1983del