Canonical Allele Identifier: CA1022879606

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990404-CGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAT-C
• gnomAD v4: 21-45990404-CGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990414_45990531del , CM000683.2:g.45990414_45990531del	GRCh38
NC_000021.8:g.47410328_47410445del , CM000683.1:g.47410328_47410445del	GRCh37
NC_000021.7:g.46234756_46234873del	NCBI36
NG_008674.1:g.13666_13783del , LRG_475:g.13666_13783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.994_1002+109del
ENST00000361866.7:c.994_1002+109del
ENST00000612273.1:c.994_1002+109del
NM_001848.2:c.994_1002+109del , LRG_475t1:c.994_1002+109del
NM_001848.3:c.994_1002+109del