Canonical Allele Identifier: CA638178935

Gene: COL6A1

Linked Data

• gnomAD v2: 21-47410391-T-TGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACC
• gnomAD v3: 21-45990477-T-TGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACC
• gnomAD v4: 21-45990477-T-TGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACC
• MyVariant Identifiers: chr21:g.47410391_47410392insGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACC (hg19) ; chr21:g.45990477_45990478insGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990511_45990512insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , CM000683.2:g.45990511_45990512insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	GRCh38
NC_000021.8:g.47410425_47410426insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , CM000683.1:g.47410425_47410426insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	GRCh37
NC_000021.7:g.46234853_46234854insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	NCBI36
NG_008674.1:g.13763_13764insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , LRG_475:g.13763_13764insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC MANE Select	ENSP00000355180.3:n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCG...
ENST00000361866.7:c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	ENSP00000355180.3:n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCG...
ENST00000612273.1:c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	ENSP00000483630.1:n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCG...
NM_001848.2:c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , LRG_475t1:c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	NP_001839.2:n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGG...
NM_001848.3:c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC MANE Select	NP_001839.2:n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGG...