Canonical Allele Identifier: CA2788008368

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772258_52772259insAAAT , CM000672.2:g.52772258_52772259insAAAT	GRCh38
NC_000010.10:g.54532018_54532019insAAAT , CM000672.1:g.54532018_54532019insAAAT	GRCh37
NC_000010.9:g.54202024_54202025insAAAT	NCBI36
NG_008196.1:g.4442_4443insATTT , LRG_154:g.4442_4443insATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-10+478_-10+479insATTT MANE Select	ENSP00000502789.1:n.-10+478_-10+479insATTT
ENST00000675947.1:c.-25+478_-25+479insATTT	ENSP00000502615.1:n.-25+478_-25+479insATTT
XM_006717861.2:c.-25+478_-25+479insATTT	XP_006717924.1:n.-25+478_-25+479insATTT
XM_011539816.1:c.-10+478_-10+479insATTT	XP_011538118.1:n.-10+478_-10+479insATTT
XM_006717861.4:c.-25+478_-25+479insATTT	XP_006717924.1:n.-25+478_-25+479insATTT
XM_011539816.3:c.-10+478_-10+479insATTT	XP_011538118.1:n.-10+478_-10+479insATTT
NM_001378373.1:c.-10+478_-10+479insATTT MANE Select	NP_001365302.1:n.-10+478_-10+479insATTT
NM_001378374.1:c.-25+478_-25+479insATTT	NP_001365303.1:n.-25+478_-25+479insATTT