Canonical Allele Identifier: CA2531379782

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771339_52771340del , CM000672.2:g.52771339_52771340del	GRCh38
NC_000010.10:g.54531099_54531100del , CM000672.1:g.54531099_54531100del	GRCh37
NC_000010.9:g.54201105_54201106del	NCBI36
NG_008196.1:g.5362_5363del , LRG_154:g.5362_5363del

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.187+110_187+111del MANE Select	ENSP00000502789.1:n.187+110_187+111del
ENST00000675947.1:c.187+110_187+111del	ENSP00000502615.1:n.187+110_187+111del
ENST00000373968.3:c.187+110_187+111del	ENSP00000363079.3:n.187+110_187+111del
NM_000242.2:c.187+110_187+111del , LRG_154t1:c.187+110_187+111del	NP_000233.1:n.187+110_187+111del
XM_006717861.2:c.187+110_187+111del	XP_006717924.1:n.187+110_187+111del
XM_011539816.1:c.187+110_187+111del	XP_011538118.1:n.187+110_187+111del
XM_006717861.4:c.187+110_187+111del	XP_006717924.1:n.187+110_187+111del
XM_011539816.3:c.187+110_187+111del	XP_011538118.1:n.187+110_187+111del
NM_000242.3:c.187+110_187+111del	NP_000233.1:n.187+110_187+111del
NM_001378373.1:c.187+110_187+111del MANE Select	NP_001365302.1:n.187+110_187+111del
NM_001378374.1:c.187+110_187+111del	NP_001365303.1:n.187+110_187+111del