Canonical Allele Identifier: CA1910259709

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772263_52772264delinsGC , CM000672.2:g.52772263_52772264delinsGC	GRCh38
NC_000010.10:g.54532023_54532024delinsGC , CM000672.1:g.54532023_54532024delinsGC	GRCh37
NC_000010.9:g.54202029_54202030delinsGC	NCBI36
NG_008196.1:g.4437_4438delinsGC , LRG_154:g.4437_4438delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-10+473_-10+474delinsGC MANE Select	ENSP00000502789.1:n.-10+473_-10+474delins...
ENST00000675947.1:c.-25+473_-25+474delinsGC	ENSP00000502615.1:n.-25+473_-25+474delins...
XM_006717861.2:c.-25+473_-25+474delinsGC	XP_006717924.1:n.-25+473_-25+474delinsGC
XM_011539816.1:c.-10+473_-10+474delinsGC	XP_011538118.1:n.-10+473_-10+474delinsGC
XM_006717861.4:c.-25+473_-25+474delinsGC	XP_006717924.1:n.-25+473_-25+474delinsGC
XM_011539816.3:c.-10+473_-10+474delinsGC	XP_011538118.1:n.-10+473_-10+474delinsGC
NM_001378373.1:c.-10+473_-10+474delinsGC MANE Select	NP_001365302.1:n.-10+473_-10+474delinsGC
NM_001378374.1:c.-25+473_-25+474delinsGC	NP_001365303.1:n.-25+473_-25+474delinsGC