Canonical Allele Identifier: CA1910256991

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52766225_52766227delinsCTG , CM000672.2:g.52766225_52766227delinsCTG	GRCh38
NC_000010.10:g.54525985_54525987delinsCTG , CM000672.1:g.54525985_54525987delinsCTG	GRCh37
NC_000010.9:g.54195991_54195993delinsCTG	NCBI36
NG_008196.1:g.10474_10476delinsCAG , LRG_154:g.10474_10476delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.*1910_*1912delinsCAG MANE Select	ENSP00000502789.1:n.*1910_*1912delinsCAG
ENST00000675947.1:c.*1910_*1912delinsCAG	ENSP00000502615.1:n.*1910_*1912delinsCAG
ENST00000373968.3:c.*1910_*1912delinsCAG	ENSP00000363079.3:n.*1910_*1912delinsCAG
NM_000242.2:c.*1910_*1912delinsCAG , LRG_154t1:c.*1910_*1912delinsCAG	NP_000233.1:n.*1910_*1912delinsCAG
XM_006717861.2:c.*1910_*1912delinsCAG	XP_006717924.1:n.*1910_*1912delinsCAG
XM_011539816.1:c.*1910_*1912delinsCAG	XP_011538118.1:n.*1910_*1912delinsCAG
XM_006717861.4:c.*1910_*1912delinsCAG	XP_006717924.1:n.*1910_*1912delinsCAG
XM_011539816.3:c.*1910_*1912delinsCAG	XP_011538118.1:n.*1910_*1912delinsCAG
NM_000242.3:c.*1910_*1912delinsCAG	NP_000233.1:n.*1910_*1912delinsCAG
NM_001378373.1:c.*1910_*1912delinsCAG MANE Select	NP_001365302.1:n.*1910_*1912delinsCAG
NM_001378374.1:c.*1910_*1912delinsCAG	NP_001365303.1:n.*1910_*1912delinsCAG