Canonical Allele Identifier: CA1910256966

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52766155_52766163delinsCATAAGTTG , CM000672.2:g.52766155_52766163delinsCATAAGTTG	GRCh38
NC_000010.10:g.54525915_54525923delinsCATAAGTTG , CM000672.1:g.54525915_54525923delinsCATAAGTTG	GRCh37
NC_000010.9:g.54195921_54195929delinsCATAAGTTG	NCBI36
NG_008196.1:g.10538_10546delinsCAACTTATG , LRG_154:g.10538_10546delinsCAACTTATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.*1974_*1982delinsCAACTTATG MANE Select	ENSP00000502789.1:n.*1974_*1982delinsCAAC...
ENST00000675947.1:c.*1974_*1982delinsCAACTTATG	ENSP00000502615.1:n.*1974_*1982delinsCAAC...
ENST00000373968.3:c.*1974_*1982delinsCAACTTATG	ENSP00000363079.3:n.*1974_*1982delinsCAAC...
NM_000242.2:c.*1974_*1982delinsCAACTTATG , LRG_154t1:c.*1974_*1982delinsCAACTTATG	NP_000233.1:n.*1974_*1982delinsCAACTTATG
XM_006717861.2:c.*1974_*1982delinsCAACTTATG	XP_006717924.1:n.*1974_*1982delinsCAACTTA...
XM_011539816.1:c.*1974_*1982delinsCAACTTATG	XP_011538118.1:n.*1974_*1982delinsCAACTTA...
XM_006717861.4:c.*1974_*1982delinsCAACTTATG	XP_006717924.1:n.*1974_*1982delinsCAACTTA...
XM_011539816.3:c.*1974_*1982delinsCAACTTATG	XP_011538118.1:n.*1974_*1982delinsCAACTTA...
NM_000242.3:c.*1974_*1982delinsCAACTTATG	NP_000233.1:n.*1974_*1982delinsCAACTTATG
NM_001378373.1:c.*1974_*1982delinsCAACTTATG MANE Select	NP_001365302.1:n.*1974_*1982delinsCAACTTA...
NM_001378374.1:c.*1974_*1982delinsCAACTTATG	NP_001365303.1:n.*1974_*1982delinsCAACTTA...