Canonical Allele Identifier: CA2591412908

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990531-C-CAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAG
• gnomAD v4: 21-45990531-C-CAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , CM000683.2:g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	GRCh38
NC_000021.8:g.47410495_47410496insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , CM000683.1:g.47410495_47410496insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	GRCh37
NC_000021.7:g.46234923_46234924insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	NCBI36
NG_008674.1:g.13833_13834insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , LRG_475:g.13833_13834insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG MANE Select	ENSP00000355180.3:n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGT...
ENST00000361866.7:c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	ENSP00000355180.3:n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGT...
ENST00000612273.1:c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	ENSP00000483630.1:n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGT...
NM_001848.2:c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , LRG_475t1:c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	NP_001839.2:n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGG...
NM_001848.3:c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG MANE Select	NP_001839.2:n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGG...