Canonical Allele Identifier: CA1910259674

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772174_52772191delinsTCTCAACCTCAGATCAAC , CM000672.2:g.52772174_52772191delinsTCTCAACCTCAGATCAAC	GRCh38
NC_000010.10:g.54531934_54531951delinsTCTCAACCTCAGATCAAC , CM000672.1:g.54531934_54531951delinsTCTCAACCTCAGATCAAC	GRCh37
NC_000010.9:g.54201940_54201957delinsTCTCAACCTCAGATCAAC	NCBI36
NG_008196.1:g.4510_4527delinsGTTGATCTGAGGTTGAGA , LRG_154:g.4510_4527delinsGTTGATCTGAGGTTGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-547_-9-530delinsGTTGATCTGAGGTTGAGA MANE Select	ENSP00000502789.1:n.-9-547_-9-530delinsGT...
ENST00000675947.1:c.-24-532_-24-515delinsGTTGATCTGAGGTTGAGA	ENSP00000502615.1:n.-24-532_-24-515delins...
XM_006717861.2:c.-24-532_-24-515delinsGTTGATCTGAGGTTGAGA	XP_006717924.1:n.-24-532_-24-515delinsGTT...
XM_011539816.1:c.-9-547_-9-530delinsGTTGATCTGAGGTTGAGA	XP_011538118.1:n.-9-547_-9-530delinsGTTGA...
XM_006717861.4:c.-24-532_-24-515delinsGTTGATCTGAGGTTGAGA	XP_006717924.1:n.-24-532_-24-515delinsGTT...
XM_011539816.3:c.-9-547_-9-530delinsGTTGATCTGAGGTTGAGA	XP_011538118.1:n.-9-547_-9-530delinsGTTGA...
NM_001378373.1:c.-9-547_-9-530delinsGTTGATCTGAGGTTGAGA MANE Select	NP_001365302.1:n.-9-547_-9-530delinsGTTGA...
NM_001378374.1:c.-24-532_-24-515delinsGTTGATCTGAGGTTGAGA	NP_001365303.1:n.-24-532_-24-515delinsGTT...