Canonical Allele Identifier: CA2573157625

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 1525215
• ClinVar RCV Id: RCV002032287
• dbSNP Id: rs2123472135
• gnomAD v3: 21-45990416-CGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGT-C
• gnomAD v4: 21-45990416-CGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990428_45990638del , CM000683.2:g.45990428_45990638del	GRCh38
NC_000021.8:g.47410342_47410552del , CM000683.1:g.47410342_47410552del	GRCh37
NC_000021.7:g.46234770_46234980del	NCBI36
NG_008674.1:g.13680_13890del , LRG_475:g.13680_13890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+6_1003-135del
ENST00000361866.7:c.1002+6_1003-135del
ENST00000612273.1:c.1002+6_1003-135del
NM_001848.2:c.1002+6_1003-135del , LRG_475t1:c.1002+6_1003-135del
NM_001848.3:c.1002+6_1003-135del