Canonical Allele Identifier: CA2654958818

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990442-A-AGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990442_45990443insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG , CM000683.2:g.45990442_45990443insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG	GRCh38
NC_000021.8:g.47410356_47410357insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG , CM000683.1:g.47410356_47410357insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG	GRCh37
NC_000021.7:g.46234784_46234785insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG	NCBI36
NG_008674.1:g.13694_13695insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG , LRG_475:g.13694_13695insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG MANE Select	ENSP00000355180.3:n.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGA...
ENST00000361866.7:c.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG	ENSP00000355180.3:n.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGA...
ENST00000612273.1:c.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG	ENSP00000483630.1:n.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGA...
NM_001848.2:c.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG , LRG_475t1:c.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG	NP_001839.2:n.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGT...
NM_001848.3:c.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG MANE Select	NP_001839.2:n.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGT...