Canonical Allele Identifier: CA1910256880

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52765967_52765970delinsTACA , CM000672.2:g.52765967_52765970delinsTACA	GRCh38
NC_000010.10:g.54525727_54525730delinsTACA , CM000672.1:g.54525727_54525730delinsTACA	GRCh37
NC_000010.9:g.54195733_54195736delinsTACA	NCBI36
NG_008196.1:g.10731_10734delinsTGTA , LRG_154:g.10731_10734delinsTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.*2167_*2170delinsTGTA MANE Select	ENSP00000502789.1:n.*2167_*2170delinsTGTA
ENST00000675947.1:c.*2167_*2170delinsTGTA	ENSP00000502615.1:n.*2167_*2170delinsTGTA
ENST00000373968.3:c.*2167_*2170delinsTGTA	ENSP00000363079.3:n.*2167_*2170delinsTGTA
NM_000242.2:c.*2167_*2170delinsTGTA , LRG_154t1:c.*2167_*2170delinsTGTA	NP_000233.1:n.*2167_*2170delinsTGTA
XM_006717861.2:c.*2167_*2170delinsTGTA	XP_006717924.1:n.*2167_*2170delinsTGTA
XM_011539816.1:c.*2167_*2170delinsTGTA	XP_011538118.1:n.*2167_*2170delinsTGTA
XM_006717861.4:c.*2167_*2170delinsTGTA	XP_006717924.1:n.*2167_*2170delinsTGTA
XM_011539816.3:c.*2167_*2170delinsTGTA	XP_011538118.1:n.*2167_*2170delinsTGTA
NM_000242.3:c.*2167_*2170delinsTGTA	NP_000233.1:n.*2167_*2170delinsTGTA
NM_001378373.1:c.*2167_*2170delinsTGTA MANE Select	NP_001365302.1:n.*2167_*2170delinsTGTA
NM_001378374.1:c.*2167_*2170delinsTGTA	NP_001365303.1:n.*2167_*2170delinsTGTA