Canonical Allele Identifier: CA1022879662

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990420-AAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACG-A
• gnomAD v4: 21-45990420-AAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990421_45990497del , CM000683.2:g.45990421_45990497del	GRCh38
NC_000021.8:g.47410335_47410411del , CM000683.1:g.47410335_47410411del	GRCh37
NC_000021.7:g.46234763_46234839del	NCBI36
NG_008674.1:g.13673_13749del , LRG_475:g.13673_13749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1001_1002+75del
ENST00000361866.7:c.1001_1002+75del
ENST00000612273.1:c.1001_1002+75del
NM_001848.2:c.1001_1002+75del , LRG_475t1:c.1001_1002+75del
NM_001848.3:c.1001_1002+75del