Canonical Allele Identifier: CA1910259487

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771814_52771815delinsCT , CM000672.2:g.52771814_52771815delinsCT	GRCh38
NC_000010.10:g.54531574_54531575delinsCT , CM000672.1:g.54531574_54531575delinsCT	GRCh37
NC_000010.9:g.54201580_54201581delinsCT	NCBI36
NG_008196.1:g.4886_4887delinsAG , LRG_154:g.4886_4887delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-171_-9-170delinsAG MANE Select	ENSP00000502789.1:n.-9-171_-9-170delinsAG
ENST00000675947.1:c.-24-156_-24-155delinsAG	ENSP00000502615.1:n.-24-156_-24-155delinsAG
XM_006717861.2:c.-24-156_-24-155delinsAG	XP_006717924.1:n.-24-156_-24-155delinsAG
XM_011539816.1:c.-9-171_-9-170delinsAG	XP_011538118.1:n.-9-171_-9-170delinsAG
XM_006717861.4:c.-24-156_-24-155delinsAG	XP_006717924.1:n.-24-156_-24-155delinsAG
XM_011539816.3:c.-9-171_-9-170delinsAG	XP_011538118.1:n.-9-171_-9-170delinsAG
NM_001378373.1:c.-9-171_-9-170delinsAG MANE Select	NP_001365302.1:n.-9-171_-9-170delinsAG
NM_001378374.1:c.-24-156_-24-155delinsAG	NP_001365303.1:n.-24-156_-24-155delinsAG