Canonical Allele Identifier: CA1910259326

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771492_52771493delinsGC , CM000672.2:g.52771492_52771493delinsGC	GRCh38
NC_000010.10:g.54531252_54531253delinsGC , CM000672.1:g.54531252_54531253delinsGC	GRCh37
NC_000010.9:g.54201258_54201259delinsGC	NCBI36
NG_008196.1:g.5208_5209delinsGC , LRG_154:g.5208_5209delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.143_144delinsGC MANE Select	ENSP00000502789.1:p.Gly48=
ENST00000675947.1:c.143_144delinsGC	ENSP00000502615.1:p.Gly48=
ENST00000373968.3:c.143_144delinsGC	ENSP00000363079.3:p.Gly48=
NM_000242.2:c.143_144delinsGC , LRG_154t1:c.143_144delinsGC	NP_000233.1:p.Gly48=
XM_006717861.2:c.143_144delinsGC	XP_006717924.1:p.Gly48=
XM_011539816.1:c.143_144delinsGC	XP_011538118.1:p.Gly48=
XM_006717861.4:c.143_144delinsGC	XP_006717924.1:p.Gly48=
XM_011539816.3:c.143_144delinsGC	XP_011538118.1:p.Gly48=
NM_000242.3:c.143_144delinsGC	NP_000233.1:p.Gly48=
NM_001378373.1:c.143_144delinsGC MANE Select	NP_001365302.1:p.Gly48=
NM_001378374.1:c.143_144delinsGC	NP_001365303.1:p.Gly48=