Canonical Allele Identifier: CA1022881860

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990567-C-CAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT
• gnomAD v4: 21-45990567-C-CAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990567_45990568insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT , CM000683.2:g.45990567_45990568insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	GRCh38
NC_000021.8:g.47410481_47410482insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT , CM000683.1:g.47410481_47410482insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	GRCh37
NC_000021.7:g.46234909_46234910insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	NCBI36
NG_008674.1:g.13819_13820insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT , LRG_475:g.13819_13820insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT MANE Select	ENSP00000355180.3:n.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAG...
ENST00000361866.7:c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	ENSP00000355180.3:n.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAG...
ENST00000612273.1:c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	ENSP00000483630.1:n.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAG...
NM_001848.2:c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT , LRG_475t1:c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	NP_001839.2:n.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGG...
NM_001848.3:c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT MANE Select	NP_001839.2:n.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGG...