Canonical Allele Identifier: CA2392434139

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990427_45990445delinsCTGGGGGGAGATAGGATGG , CM000683.2:g.45990427_45990445delinsCTGGGGGGAGATAGGATGG	GRCh38
NC_000021.8:g.47410341_47410359delinsCTGGGGGGAGATAGGATGG , CM000683.1:g.47410341_47410359delinsCTGGGGGGAGATAGGATGG	GRCh37
NC_000021.7:g.46234769_46234787delinsCTGGGGGGAGATAGGATGG	NCBI36
NG_008674.1:g.13679_13697delinsCTGGGGGGAGATAGGATGG , LRG_475:g.13679_13697delinsCTGGGGGGAGATAGGATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG MANE Select	ENSP00000355180.3:n.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG
ENST00000361866.7:c.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG	ENSP00000355180.3:n.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG
ENST00000612273.1:c.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG	ENSP00000483630.1:n.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG
NM_001848.2:c.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG , LRG_475t1:c.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG	NP_001839.2:n.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG
NM_001848.3:c.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG MANE Select	NP_001839.2:n.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG