Canonical Allele Identifier: CA2654972520

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990510-C-CCCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990531_45990532insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC , CM000683.2:g.45990531_45990532insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC	GRCh38
NC_000021.8:g.47410445_47410446insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC , CM000683.1:g.47410445_47410446insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC	GRCh37
NC_000021.7:g.46234873_46234874insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC	NCBI36
NG_008674.1:g.13783_13784insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC , LRG_475:g.13783_13784insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC MANE Select	ENSP00000355180.3:n.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAG...
ENST00000361866.7:c.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC	ENSP00000355180.3:n.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAG...
ENST00000612273.1:c.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC	ENSP00000483630.1:n.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAG...
NM_001848.2:c.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC , LRG_475t1:c.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC	NP_001839.2:n.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGG...
NM_001848.3:c.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC MANE Select	NP_001839.2:n.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGG...