Canonical Allele Identifier: CA1022879585

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990401-CGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGG-C
• gnomAD v4: 21-45990401-CGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990404_45990521del , CM000683.2:g.45990404_45990521del	GRCh38
NC_000021.8:g.47410318_47410435del , CM000683.1:g.47410318_47410435del	GRCh37
NC_000021.7:g.46234746_46234863del	NCBI36
NG_008674.1:g.13656_13773del , LRG_475:g.13656_13773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.984_1002+99del
ENST00000361866.7:c.984_1002+99del
ENST00000612273.1:c.984_1002+99del
NM_001848.2:c.984_1002+99del , LRG_475t1:c.984_1002+99del
NM_001848.3:c.984_1002+99del