Canonical Allele Identifier: CA1910259431

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771690_52771691delinsAC , CM000672.2:g.52771690_52771691delinsAC	GRCh38
NC_000010.10:g.54531450_54531451delinsAC , CM000672.1:g.54531450_54531451delinsAC	GRCh37
NC_000010.9:g.54201456_54201457delinsAC	NCBI36
NG_008196.1:g.5010_5011delinsGT , LRG_154:g.5010_5011delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-47_-9-46delinsGT MANE Select	ENSP00000502789.1:n.-9-47_-9-46delinsGT
ENST00000675947.1:c.-24-32_-24-31delinsGT	ENSP00000502615.1:n.-24-32_-24-31delinsGT
ENST00000373968.3:c.-56_-55delinsGT	ENSP00000363079.3:n.-56_-55delinsGT
NM_000242.2:c.-56_-55delinsGT , LRG_154t1:c.-56_-55delinsGT	NP_000233.1:n.-56_-55delinsGT
XM_006717861.2:c.-24-32_-24-31delinsGT	XP_006717924.1:n.-24-32_-24-31delinsGT
XM_011539816.1:c.-9-47_-9-46delinsGT	XP_011538118.1:n.-9-47_-9-46delinsGT
XM_006717861.4:c.-24-32_-24-31delinsGT	XP_006717924.1:n.-24-32_-24-31delinsGT
XM_011539816.3:c.-9-47_-9-46delinsGT	XP_011538118.1:n.-9-47_-9-46delinsGT
NM_001378373.1:c.-9-47_-9-46delinsGT MANE Select	NP_001365302.1:n.-9-47_-9-46delinsGT
NM_001378374.1:c.-24-32_-24-31delinsGT	NP_001365303.1:n.-24-32_-24-31delinsGT