Canonical Allele Identifier: CA1022881596

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990527-T-TGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGG
• gnomAD v4: 21-45990527-T-TGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , CM000683.2:g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	GRCh38
NC_000021.8:g.47410495_47410496insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , CM000683.1:g.47410495_47410496insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	GRCh37
NC_000021.7:g.46234923_46234924insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	NCBI36
NG_008674.1:g.13833_13834insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , LRG_475:g.13833_13834insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG

Transcript Alleles

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