Canonical Allele Identifier: CA2654972587

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990529-G-GACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , CM000683.2:g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	GRCh38
NC_000021.8:g.47410495_47410496insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , CM000683.1:g.47410495_47410496insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	GRCh37
NC_000021.7:g.46234923_46234924insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	NCBI36
NG_008674.1:g.13833_13834insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG , LRG_475:g.13833_13834insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG

Transcript Alleles

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