Canonical Allele Identifier: CA1910259537

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771916_52771917delinsCA , CM000672.2:g.52771916_52771917delinsCA	GRCh38
NC_000010.10:g.54531676_54531677delinsCA , CM000672.1:g.54531676_54531677delinsCA	GRCh37
NC_000010.9:g.54201682_54201683delinsCA	NCBI36
NG_008196.1:g.4784_4785delinsTG , LRG_154:g.4784_4785delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-273_-9-272delinsTG MANE Select	ENSP00000502789.1:n.-9-273_-9-272delinsTG
ENST00000675947.1:c.-24-258_-24-257delinsTG	ENSP00000502615.1:n.-24-258_-24-257delinsTG
XM_006717861.2:c.-24-258_-24-257delinsTG	XP_006717924.1:n.-24-258_-24-257delinsTG
XM_011539816.1:c.-9-273_-9-272delinsTG	XP_011538118.1:n.-9-273_-9-272delinsTG
XM_006717861.4:c.-24-258_-24-257delinsTG	XP_006717924.1:n.-24-258_-24-257delinsTG
XM_011539816.3:c.-9-273_-9-272delinsTG	XP_011538118.1:n.-9-273_-9-272delinsTG
NM_001378373.1:c.-9-273_-9-272delinsTG MANE Select	NP_001365302.1:n.-9-273_-9-272delinsTG
NM_001378374.1:c.-24-258_-24-257delinsTG	NP_001365303.1:n.-24-258_-24-257delinsTG