Canonical Allele Identifier: CA2654972673

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990567-C-CGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990583_45990584insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG , CM000683.2:g.45990583_45990584insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG	GRCh38
NC_000021.8:g.47410497_47410498insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG , CM000683.1:g.47410497_47410498insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG	GRCh37
NC_000021.7:g.46234925_46234926insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG	NCBI36
NG_008674.1:g.13835_13836insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG , LRG_475:g.13835_13836insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG MANE Select	ENSP00000355180.3:n.1002+161_1002+162insGACAGTGTGAAGGTGACCAGG...
ENST00000361866.7:c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG	ENSP00000355180.3:n.1002+161_1002+162insGACAGTGTGAAGGTGACCAGG...
ENST00000612273.1:c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG	ENSP00000483630.1:n.1002+161_1002+162insGACAGTGTGAAGGTGACCAGG...
NM_001848.2:c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG , LRG_475t1:c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG	NP_001839.2:n.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGG...
NM_001848.3:c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG MANE Select	NP_001839.2:n.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGG...