Canonical Allele Identifier: CA1139635884

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990441_45990442insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG , CM000683.2:g.45990441_45990442insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG	GRCh38
NC_000021.8:g.47410355_47410356insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG , CM000683.1:g.47410355_47410356insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG	GRCh37
NC_000021.7:g.46234783_46234784insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG	NCBI36
NG_008674.1:g.13693_13694insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG , LRG_475:g.13693_13694insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG MANE Select	ENSP00000355180.3:n.1002+19_1002+20insGGGACGGGGATGATGGGGTGGAC...
ENST00000361866.7:c.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG	ENSP00000355180.3:n.1002+19_1002+20insGGGACGGGGATGATGGGGTGGAC...
ENST00000612273.1:c.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG	ENSP00000483630.1:n.1002+19_1002+20insGGGACGGGGATGATGGGGTGGAC...
NM_001848.2:c.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG , LRG_475t1:c.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG	NP_001839.2:n.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTG...
NM_001848.3:c.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG MANE Select	NP_001839.2:n.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTG...