Canonical Allele Identifier: CA1910259596

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772026_52772032delinsCCTCTTT , CM000672.2:g.52772026_52772032delinsCCTCTTT	GRCh38
NC_000010.10:g.54531786_54531792delinsCCTCTTT , CM000672.1:g.54531786_54531792delinsCCTCTTT	GRCh37
NC_000010.9:g.54201792_54201798delinsCCTCTTT	NCBI36
NG_008196.1:g.4669_4675delinsAAAGAGG , LRG_154:g.4669_4675delinsAAAGAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-388_-9-382delinsAAAGAGG MANE Select	ENSP00000502789.1:n.-9-388_-9-382delinsAAAGAGG
ENST00000675947.1:c.-24-373_-24-367delinsAAAGAGG	ENSP00000502615.1:n.-24-373_-24-367delinsAAAGAGG
XM_006717861.2:c.-24-373_-24-367delinsAAAGAGG	XP_006717924.1:n.-24-373_-24-367delinsAAAGAGG
XM_011539816.1:c.-9-388_-9-382delinsAAAGAGG	XP_011538118.1:n.-9-388_-9-382delinsAAAGAGG
XM_006717861.4:c.-24-373_-24-367delinsAAAGAGG	XP_006717924.1:n.-24-373_-24-367delinsAAAGAGG
XM_011539816.3:c.-9-388_-9-382delinsAAAGAGG	XP_011538118.1:n.-9-388_-9-382delinsAAAGAGG
NM_001378373.1:c.-9-388_-9-382delinsAAAGAGG MANE Select	NP_001365302.1:n.-9-388_-9-382delinsAAAGAGG
NM_001378374.1:c.-24-373_-24-367delinsAAAGAGG	NP_001365303.1:n.-24-373_-24-367delinsAAAGAGG