Canonical Allele Identifier: CA2392504554

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122155_46122169delinsACCCGTGAGTCACAG , CM000683.2:g.46122155_46122169delinsACCCGTGAGTCACAG	GRCh38
NC_000021.8:g.47542069_47542083delinsACCCGTGAGTCACAG , CM000683.1:g.47542069_47542083delinsACCCGTGAGTCACAG	GRCh37
NC_000021.7:g.46366497_46366511delinsACCCGTGAGTCACAG	NCBI36
NG_008675.1:g.29037_29051delinsACCCGTGAGTCACAG , LRG_476:g.29037_29051delinsACCCGTGAGTCACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1569_1572+11delinsACCCGTGAGTCACAG
ENST00000300527.9:c.1569_1572+11delinsACCCGTGAGTCACAG
ENST00000409416.6:c.1569_1572+11delinsACCCGTGAGTCACAG
ENST00000300527.8:c.1569_1572+11delinsACCCGTGAGTCACAG
ENST00000310645.9:c.1569_1572+11delinsACCCGTGAGTCACAG
ENST00000397763.5:c.1569_1572+11delinsACCCGTGAGTCACAG
ENST00000409416.5:c.1569_1572+11delinsACCCGTGAGTCACAG
ENST00000413758.1:c.192_195+11delinsACCCGTGAGTCACAG
NM_001849.3:c.1569_1572+11delinsACCCGTGAGTCACAG , LRG_476t1:c.1569_1572+11delinsACCCGTGAGTCACAG
NM_058174.2:c.1569_1572+11delinsACCCGTGAGTCACAG
NM_058175.2:c.1569_1572+11delinsACCCGTGAGTCACAG
XM_011529451.1:c.1569_1572+11delinsACCCGTGAGTCACAG
XM_011529452.1:c.1569_1572+11delinsACCCGTGAGTCACAG
XR_937438.1:n.1692_1695+11delinsACCCGTGAGTCACAG
XR_937439.1:n.1692_1695+11delinsACCCGTGAGTCACAG
XR_937438.2:n.1699_1702+11delinsACCCGTGAGTCACAG
XR_937439.2:n.1699_1702+11delinsACCCGTGAGTCACAG
NM_001849.4:c.1569_1572+11delinsACCCGTGAGTCACAG
NM_058174.3:c.1569_1572+11delinsACCCGTGAGTCACAG
NM_058175.3:c.1569_1572+11delinsACCCGTGAGTCACAG