Canonical Allele Identifier: CA1910259654

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772132_52772134delinsTGG , CM000672.2:g.52772132_52772134delinsTGG	GRCh38
NC_000010.10:g.54531892_54531894delinsTGG , CM000672.1:g.54531892_54531894delinsTGG	GRCh37
NC_000010.9:g.54201898_54201900delinsTGG	NCBI36
NG_008196.1:g.4567_4569delinsCCA , LRG_154:g.4567_4569delinsCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-490_-9-488delinsCCA MANE Select	ENSP00000502789.1:n.-9-490_-9-488delinsCC...
ENST00000675947.1:c.-24-475_-24-473delinsCCA	ENSP00000502615.1:n.-24-475_-24-473delins...
XM_006717861.2:c.-24-475_-24-473delinsCCA	XP_006717924.1:n.-24-475_-24-473delinsCCA...
XM_011539816.1:c.-9-490_-9-488delinsCCA	XP_011538118.1:n.-9-490_-9-488delinsCCA
XM_006717861.4:c.-24-475_-24-473delinsCCA	XP_006717924.1:n.-24-475_-24-473delinsCCA...
XM_011539816.3:c.-9-490_-9-488delinsCCA	XP_011538118.1:n.-9-490_-9-488delinsCCA
NM_001378373.1:c.-9-490_-9-488delinsCCA MANE Select	NP_001365302.1:n.-9-490_-9-488delinsCCA
NM_001378374.1:c.-24-475_-24-473delinsCCA	NP_001365303.1:n.-24-475_-24-473delinsCCA...