Canonical Allele Identifier: CA1910259655

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772132_52772139delinsTGGCAGGC , CM000672.2:g.52772132_52772139delinsTGGCAGGC	GRCh38
NC_000010.10:g.54531892_54531899delinsTGGCAGGC , CM000672.1:g.54531892_54531899delinsTGGCAGGC	GRCh37
NC_000010.9:g.54201898_54201905delinsTGGCAGGC	NCBI36
NG_008196.1:g.4562_4569delinsGCCTGCCA , LRG_154:g.4562_4569delinsGCCTGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-495_-9-488delinsGCCTGCCA MANE Select	ENSP00000502789.1:n.-9-495_-9-488delinsGCCTGCCA
ENST00000675947.1:c.-24-480_-24-473delinsGCCTGCCA	ENSP00000502615.1:n.-24-480_-24-473delinsGCCTGCCA
XM_006717861.2:c.-24-480_-24-473delinsGCCTGCCA	XP_006717924.1:n.-24-480_-24-473delinsGCCTGCCA
XM_011539816.1:c.-9-495_-9-488delinsGCCTGCCA	XP_011538118.1:n.-9-495_-9-488delinsGCCTGCCA
XM_006717861.4:c.-24-480_-24-473delinsGCCTGCCA	XP_006717924.1:n.-24-480_-24-473delinsGCCTGCCA
XM_011539816.3:c.-9-495_-9-488delinsGCCTGCCA	XP_011538118.1:n.-9-495_-9-488delinsGCCTGCCA
NM_001378373.1:c.-9-495_-9-488delinsGCCTGCCA MANE Select	NP_001365302.1:n.-9-495_-9-488delinsGCCTGCCA
NM_001378374.1:c.-24-480_-24-473delinsGCCTGCCA	NP_001365303.1:n.-24-480_-24-473delinsGCCTGCCA