Canonical Allele Identifier: CA2392434175

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990457_45990477delinsCGAGGAGGAATGGGGCGAGAT , CM000683.2:g.45990457_45990477delinsCGAGGAGGAATGGGGCGAGAT	GRCh38
NC_000021.8:g.47410371_47410391delinsCGAGGAGGAATGGGGCGAGAT , CM000683.1:g.47410371_47410391delinsCGAGGAGGAATGGGGCGAGAT	GRCh37
NC_000021.7:g.46234799_46234819delinsCGAGGAGGAATGGGGCGAGAT	NCBI36
NG_008674.1:g.13709_13729delinsCGAGGAGGAATGGGGCGAGAT , LRG_475:g.13709_13729delinsCGAGGAGGAATGGGGCGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT MANE Select	ENSP00000355180.3:n.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGA...
ENST00000361866.7:c.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT	ENSP00000355180.3:n.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGA...
ENST00000612273.1:c.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT	ENSP00000483630.1:n.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGA...
NM_001848.2:c.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT , LRG_475t1:c.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT	NP_001839.2:n.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT
NM_001848.3:c.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT MANE Select	NP_001839.2:n.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT