Canonical Allele Identifier: CA2818097546

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG , CM000683.2:g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	GRCh38
NC_000021.8:g.47410378_47410379insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG , CM000683.1:g.47410378_47410379insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	GRCh37
NC_000021.7:g.46234806_46234807insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	NCBI36
NG_008674.1:g.13716_13717insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG , LRG_475:g.13716_13717insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG MANE Select	ENSP00000355180.3:n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACA...
ENST00000361866.7:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	ENSP00000355180.3:n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACA...
ENST00000612273.1:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	ENSP00000483630.1:n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACA...
NM_001848.2:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG , LRG_475t1:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	NP_001839.2:n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGA...
NM_001848.3:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG MANE Select	NP_001839.2:n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGA...