Canonical Allele Identifier: CA638178902

Gene: COL6A1

Linked Data

• dbSNP Id: rs749376444
• gnomAD v2: 21-47410357-T-TGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA
• gnomAD v3: 21-45990443-T-TGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA
• gnomAD v4: 21-45990443-T-TGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA
• MyVariant Identifiers: chr21:g.47410357_47410358insGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA (hg19) ; chr21:g.45990443_45990444insGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG , CM000683.2:g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	GRCh38
NC_000021.8:g.47410378_47410379insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG , CM000683.1:g.47410378_47410379insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	GRCh37
NC_000021.7:g.46234806_46234807insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	NCBI36
NG_008674.1:g.13716_13717insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG , LRG_475:g.13716_13717insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG

Transcript Alleles

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