Canonical Allele Identifier: CA1910259375

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771571_52771572delinsGT , CM000672.2:g.52771571_52771572delinsGT	GRCh38
NC_000010.10:g.54531331_54531332delinsGT , CM000672.1:g.54531331_54531332delinsGT	GRCh37
NC_000010.9:g.54201337_54201338delinsGT	NCBI36
NG_008196.1:g.5129_5130delinsAC , LRG_154:g.5129_5130delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.64_65delinsAC MANE Select	ENSP00000502789.1:p.Thr22=
ENST00000675947.1:c.64_65delinsAC	ENSP00000502615.1:p.Thr22=
ENST00000373968.3:c.64_65delinsAC	ENSP00000363079.3:p.Thr22=
NM_000242.2:c.64_65delinsAC , LRG_154t1:c.64_65delinsAC	NP_000233.1:p.Thr22=
XM_006717861.2:c.64_65delinsAC	XP_006717924.1:p.Thr22=
XM_011539816.1:c.64_65delinsAC	XP_011538118.1:p.Thr22=
XM_006717861.4:c.64_65delinsAC	XP_006717924.1:p.Thr22=
XM_011539816.3:c.64_65delinsAC	XP_011538118.1:p.Thr22=
NM_000242.3:c.64_65delinsAC	NP_000233.1:p.Thr22=
NM_001378373.1:c.64_65delinsAC MANE Select	NP_001365302.1:p.Thr22=
NM_001378374.1:c.64_65delinsAC	NP_001365303.1:p.Thr22=