Canonical Allele Identifier: CA1910256928

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52766080_52766084delinsTAAAG , CM000672.2:g.52766080_52766084delinsTAAAG	GRCh38
NC_000010.10:g.54525840_54525844delinsTAAAG , CM000672.1:g.54525840_54525844delinsTAAAG	GRCh37
NC_000010.9:g.54195846_54195850delinsTAAAG	NCBI36
NG_008196.1:g.10617_10621delinsCTTTA , LRG_154:g.10617_10621delinsCTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.*2053_*2057delinsCTTTA MANE Select	ENSP00000502789.1:n.*2053_*2057delinsCTTTA
ENST00000675947.1:c.*2053_*2057delinsCTTTA	ENSP00000502615.1:n.*2053_*2057delinsCTTTA
ENST00000373968.3:c.*2053_*2057delinsCTTTA	ENSP00000363079.3:n.*2053_*2057delinsCTTTA
NM_000242.2:c.*2053_*2057delinsCTTTA , LRG_154t1:c.*2053_*2057delinsCTTTA	NP_000233.1:n.*2053_*2057delinsCTTTA
XM_006717861.2:c.*2053_*2057delinsCTTTA	XP_006717924.1:n.*2053_*2057delinsCTTTA
XM_011539816.1:c.*2053_*2057delinsCTTTA	XP_011538118.1:n.*2053_*2057delinsCTTTA
XM_006717861.4:c.*2053_*2057delinsCTTTA	XP_006717924.1:n.*2053_*2057delinsCTTTA
XM_011539816.3:c.*2053_*2057delinsCTTTA	XP_011538118.1:n.*2053_*2057delinsCTTTA
NM_000242.3:c.*2053_*2057delinsCTTTA	NP_000233.1:n.*2053_*2057delinsCTTTA
NM_001378373.1:c.*2053_*2057delinsCTTTA MANE Select	NP_001365302.1:n.*2053_*2057delinsCTTTA
NM_001378374.1:c.*2053_*2057delinsCTTTA	NP_001365303.1:n.*2053_*2057delinsCTTTA