Canonical Allele Identifier: CA1022879645

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990416-CGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGT-C
• gnomAD v4: 21-45990416-CGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990428_45990545del , CM000683.2:g.45990428_45990545del	GRCh38
NC_000021.8:g.47410342_47410459del , CM000683.1:g.47410342_47410459del	GRCh37
NC_000021.7:g.46234770_46234887del	NCBI36
NG_008674.1:g.13680_13797del , LRG_475:g.13680_13797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+6_1002+123del
ENST00000361866.7:c.1002+6_1002+123del
ENST00000612273.1:c.1002+6_1002+123del
NM_001848.2:c.1002+6_1002+123del , LRG_475t1:c.1002+6_1002+123del
NM_001848.3:c.1002+6_1002+123del