Canonical Allele Identifier: CA2654972522

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990510-C-CCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990568_45990569insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG , CM000683.2:g.45990568_45990569insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG	GRCh38
NC_000021.8:g.47410482_47410483insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG , CM000683.1:g.47410482_47410483insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG	GRCh37
NC_000021.7:g.46234910_46234911insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG	NCBI36
NG_008674.1:g.13820_13821insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG , LRG_475:g.13820_13821insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG MANE Select	ENSP00000355180.3:n.1002+146_1002+147insAGGAGGAATGGGGCGAGATGG...
ENST00000361866.7:c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG	ENSP00000355180.3:n.1002+146_1002+147insAGGAGGAATGGGGCGAGATGG...
ENST00000612273.1:c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG	ENSP00000483630.1:n.1002+146_1002+147insAGGAGGAATGGGGCGAGATGG...
NM_001848.2:c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG , LRG_475t1:c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG	NP_001839.2:n.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGG...
NM_001848.3:c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG MANE Select	NP_001839.2:n.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGG...