Canonical Allele Identifier: CA2654958444

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990414-G-GGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG , CM000683.2:g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG	GRCh38
NC_000021.8:g.47410378_47410379insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG , CM000683.1:g.47410378_47410379insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG	GRCh37
NC_000021.7:g.46234806_46234807insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG	NCBI36
NG_008674.1:g.13716_13717insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG , LRG_475:g.13716_13717insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
ENST00000361866.7:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
ENST00000612273.1:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
NM_001848.2:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG , LRG_475t1:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
NM_001848.3:c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG