Canonical Allele Identifier: CA2654972560

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990522-T-TGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990576_45990577insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA , CM000683.2:g.45990576_45990577insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA	GRCh38
NC_000021.8:g.47410490_47410491insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA , CM000683.1:g.47410490_47410491insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA	GRCh37
NC_000021.7:g.46234918_46234919insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA	NCBI36
NG_008674.1:g.13828_13829insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA , LRG_475:g.13828_13829insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA MANE Select	ENSP00000355180.3:n.1002+154_1002+155insGGGGGTGAGATGGGGAGGGAC...
ENST00000361866.7:c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA	ENSP00000355180.3:n.1002+154_1002+155insGGGGGTGAGATGGGGAGGGAC...
ENST00000612273.1:c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA	ENSP00000483630.1:n.1002+154_1002+155insGGGGGTGAGATGGGGAGGGAC...
NM_001848.2:c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA , LRG_475t1:c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA	NP_001839.2:n.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTG...
NM_001848.3:c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA MANE Select	NP_001839.2:n.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTG...