Canonical Allele Identifier: CA2034474748

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975960_47976351delinsTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG , CM000674.2:g.47975960_47976351delinsTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG	GRCh38
NC_000012.11:g.48369743_48370134delinsTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG , CM000674.1:g.48369743_48370134delinsTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG	GRCh37
NC_000012.10:g.46656010_46656401delinsTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG	NCBI36
NG_008072.1:g.33152_33543delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3282+163_3390+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
ENST00000380518.8:c.3489+163_3597+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
ENST00000337299.6:c.3282+163_3390+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
ENST00000380518.7:c.3489+163_3597+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
ENST00000493991.5:n.2575+163_2683+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
ENST00000546974.1:n.342+163_450+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
NM_001844.4:c.3489+163_3597+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
NM_033150.2:c.3282+163_3390+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_006719242.2:c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_011537928.1:c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_011537929.1:c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_011537930.1:c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_011537931.1:c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_011537932.1:c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_011537933.1:c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_011537934.1:c.3630+163_3738+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_011537935.1:c.2577+163_2685+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_017018828.1:c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_017018829.1:c.3630+163_3738+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_017018830.1:c.3423+163_3531+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
XM_017018831.2:c.2943+163_3051+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
NM_001844.5:c.3489+163_3597+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
NM_033150.3:c.3282+163_3390+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA