Canonical Allele Identifier: CA1910259536

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771913_52771918delinsAAACAT , CM000672.2:g.52771913_52771918delinsAAACAT	GRCh38
NC_000010.10:g.54531673_54531678delinsAAACAT , CM000672.1:g.54531673_54531678delinsAAACAT	GRCh37
NC_000010.9:g.54201679_54201684delinsAAACAT	NCBI36
NG_008196.1:g.4783_4788delinsATGTTT , LRG_154:g.4783_4788delinsATGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-274_-9-269delinsATGTTT MANE Select	ENSP00000502789.1:n.-9-274_-9-269delinsATGTTT
ENST00000675947.1:c.-24-259_-24-254delinsATGTTT	ENSP00000502615.1:n.-24-259_-24-254delinsATGTTT
XM_006717861.2:c.-24-259_-24-254delinsATGTTT	XP_006717924.1:n.-24-259_-24-254delinsATGTTT
XM_011539816.1:c.-9-274_-9-269delinsATGTTT	XP_011538118.1:n.-9-274_-9-269delinsATGTTT
XM_006717861.4:c.-24-259_-24-254delinsATGTTT	XP_006717924.1:n.-24-259_-24-254delinsATGTTT
XM_011539816.3:c.-9-274_-9-269delinsATGTTT	XP_011538118.1:n.-9-274_-9-269delinsATGTTT
NM_001378373.1:c.-9-274_-9-269delinsATGTTT MANE Select	NP_001365302.1:n.-9-274_-9-269delinsATGTTT
NM_001378374.1:c.-24-259_-24-254delinsATGTTT	NP_001365303.1:n.-24-259_-24-254delinsATGTTT