Canonical Allele Identifier: CA1910259602

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772034_52772038delinsTCTCC , CM000672.2:g.52772034_52772038delinsTCTCC	GRCh38
NC_000010.10:g.54531794_54531798delinsTCTCC , CM000672.1:g.54531794_54531798delinsTCTCC	GRCh37
NC_000010.9:g.54201800_54201804delinsTCTCC	NCBI36
NG_008196.1:g.4663_4667delinsGGAGA , LRG_154:g.4663_4667delinsGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-394_-9-390delinsGGAGA MANE Select	ENSP00000502789.1:n.-9-394_-9-390delinsGGAGA
ENST00000675947.1:c.-24-379_-24-375delinsGGAGA	ENSP00000502615.1:n.-24-379_-24-375delinsGGAGA
XM_006717861.2:c.-24-379_-24-375delinsGGAGA	XP_006717924.1:n.-24-379_-24-375delinsGGAGA
XM_011539816.1:c.-9-394_-9-390delinsGGAGA	XP_011538118.1:n.-9-394_-9-390delinsGGAGA
XM_006717861.4:c.-24-379_-24-375delinsGGAGA	XP_006717924.1:n.-24-379_-24-375delinsGGAGA
XM_011539816.3:c.-9-394_-9-390delinsGGAGA	XP_011538118.1:n.-9-394_-9-390delinsGGAGA
NM_001378373.1:c.-9-394_-9-390delinsGGAGA MANE Select	NP_001365302.1:n.-9-394_-9-390delinsGGAGA
NM_001378374.1:c.-24-379_-24-375delinsGGAGA	NP_001365303.1:n.-24-379_-24-375delinsGGAGA