Canonical Allele Identifier: CA2788008344
Gene: MBL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771783_52771784insGAG , CM000672.2:g.52771783_52771784insGAG GRCh38
NC_000010.10:g.54531543_54531544insGAG , CM000672.1:g.54531543_54531544insGAG GRCh37
NC_000010.9:g.54201549_54201550insGAG NCBI36
NG_008196.1:g.4917_4918insCTC , LRG_154:g.4917_4918insCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-140_-9-139insCTC MANE Select ENSP00000502789.1:n.-9-140_-9-139insCTC
ENST00000675947.1:c.-24-125_-24-124insCTC ENSP00000502615.1:n.-24-125_-24-124insCTC
XM_006717861.2:c.-24-125_-24-124insCTC XP_006717924.1:n.-24-125_-24-124insCTC
XM_011539816.1:c.-9-140_-9-139insCTC XP_011538118.1:n.-9-140_-9-139insCTC
XM_006717861.4:c.-24-125_-24-124insCTC XP_006717924.1:n.-24-125_-24-124insCTC
XM_011539816.3:c.-9-140_-9-139insCTC XP_011538118.1:n.-9-140_-9-139insCTC
NM_001378373.1:c.-9-140_-9-139insCTC MANE Select NP_001365302.1:n.-9-140_-9-139insCTC
NM_001378374.1:c.-24-125_-24-124insCTC NP_001365303.1:n.-24-125_-24-124insCTC
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