Canonical Allele Identifier: CA638178899

Gene: COL6A1

Linked Data

• gnomAD v2: 21-47410356-A-ATGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG
• gnomAD v3: 21-45990442-A-ATGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG
• gnomAD v4: 21-45990442-A-ATGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG
• MyVariant Identifiers: chr21:g.47410356_47410357insTGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG , CM000683.2:g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	GRCh38
NC_000021.8:g.47410378_47410379insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG , CM000683.1:g.47410378_47410379insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	GRCh37
NC_000021.7:g.46234806_46234807insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	NCBI36
NG_008674.1:g.13716_13717insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG , LRG_475:g.13716_13717insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG

Transcript Alleles

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