Canonical Allele Identifier: CA1910256952

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52766131_52766135delinsTTCAG , CM000672.2:g.52766131_52766135delinsTTCAG	GRCh38
NC_000010.10:g.54525891_54525895delinsTTCAG , CM000672.1:g.54525891_54525895delinsTTCAG	GRCh37
NC_000010.9:g.54195897_54195901delinsTTCAG	NCBI36
NG_008196.1:g.10566_10570delinsCTGAA , LRG_154:g.10566_10570delinsCTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.*2002_*2006delinsCTGAA MANE Select	ENSP00000502789.1:n.*2002_*2006delinsCTGAA
ENST00000675947.1:c.*2002_*2006delinsCTGAA	ENSP00000502615.1:n.*2002_*2006delinsCTGAA
ENST00000373968.3:c.*2002_*2006delinsCTGAA	ENSP00000363079.3:n.*2002_*2006delinsCTGAA
NM_000242.2:c.*2002_*2006delinsCTGAA , LRG_154t1:c.*2002_*2006delinsCTGAA	NP_000233.1:n.*2002_*2006delinsCTGAA
XM_006717861.2:c.*2002_*2006delinsCTGAA	XP_006717924.1:n.*2002_*2006delinsCTGAA
XM_011539816.1:c.*2002_*2006delinsCTGAA	XP_011538118.1:n.*2002_*2006delinsCTGAA
XM_006717861.4:c.*2002_*2006delinsCTGAA	XP_006717924.1:n.*2002_*2006delinsCTGAA
XM_011539816.3:c.*2002_*2006delinsCTGAA	XP_011538118.1:n.*2002_*2006delinsCTGAA
NM_000242.3:c.*2002_*2006delinsCTGAA	NP_000233.1:n.*2002_*2006delinsCTGAA
NM_001378373.1:c.*2002_*2006delinsCTGAA MANE Select	NP_001365302.1:n.*2002_*2006delinsCTGAA
NM_001378374.1:c.*2002_*2006delinsCTGAA	NP_001365303.1:n.*2002_*2006delinsCTGAA