Canonical Allele Identifier: CA2392434141

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990428_45990512delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC , CM000683.2:g.45990428_45990512delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	GRCh38
NC_000021.8:g.47410342_47410426delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC , CM000683.1:g.47410342_47410426delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	GRCh37
NC_000021.7:g.46234770_46234854delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	NCBI36
NG_008674.1:g.13680_13764delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC , LRG_475:g.13680_13764delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC MANE Select	ENSP00000355180.3:n.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACG...
ENST00000361866.7:c.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	ENSP00000355180.3:n.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACG...
ENST00000612273.1:c.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	ENSP00000483630.1:n.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACG...
NM_001848.2:c.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC , LRG_475t1:c.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	NP_001839.2:n.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGG...
NM_001848.3:c.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC MANE Select	NP_001839.2:n.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGG...