Canonical Allele Identifier: CA2563960770

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771500_52771501insTACCCT , CM000672.2:g.52771500_52771501insTACCCT	GRCh38
NC_000010.10:g.54531260_54531261insTACCCT , CM000672.1:g.54531260_54531261insTACCCT	GRCh37
NC_000010.9:g.54201266_54201267insTACCCT	NCBI36
NG_008196.1:g.5200_5201insAGGGTA , LRG_154:g.5200_5201insAGGGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.135_136insAGGGTA MANE Select	ENSP00000502789.1:p.Gly45_Phe46insArgVal
ENST00000675947.1:c.135_136insAGGGTA	ENSP00000502615.1:p.Gly45_Phe46insArgVal
ENST00000373968.3:c.135_136insAGGGTA	ENSP00000363079.3:p.Gly45_Phe46insArgVal
NM_000242.2:c.135_136insAGGGTA , LRG_154t1:c.135_136insAGGGTA	NP_000233.1:p.Gly45_Phe46insArgVal
XM_006717861.2:c.135_136insAGGGTA	XP_006717924.1:p.Gly45_Phe46insArgVal
XM_011539816.1:c.135_136insAGGGTA	XP_011538118.1:p.Gly45_Phe46insArgVal
XM_006717861.4:c.135_136insAGGGTA	XP_006717924.1:p.Gly45_Phe46insArgVal
XM_011539816.3:c.135_136insAGGGTA	XP_011538118.1:p.Gly45_Phe46insArgVal
NM_000242.3:c.135_136insAGGGTA	NP_000233.1:p.Gly45_Phe46insArgVal
NM_001378373.1:c.135_136insAGGGTA MANE Select	NP_001365302.1:p.Gly45_Phe46insArgVal
NM_001378374.1:c.135_136insAGGGTA	NP_001365303.1:p.Gly45_Phe46insArgVal