Canonical Allele Identifier: CA2654970349

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990465-A-AATGGGGCGAGATGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990496_45990497insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC , CM000683.2:g.45990496_45990497insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC	GRCh38
NC_000021.8:g.47410410_47410411insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC , CM000683.1:g.47410410_47410411insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC	GRCh37
NC_000021.7:g.46234838_46234839insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC	NCBI36
NG_008674.1:g.13748_13749insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC , LRG_475:g.13748_13749insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC MANE Select	ENSP00000355180.3:n.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAG...
ENST00000361866.7:c.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC	ENSP00000355180.3:n.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAG...
ENST00000612273.1:c.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC	ENSP00000483630.1:n.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAG...
NM_001848.2:c.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC , LRG_475t1:c.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC	NP_001839.2:n.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGG...
NM_001848.3:c.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC MANE Select	NP_001839.2:n.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGG...