Canonical Allele Identifier: CA2654972518

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990510-C-CCGGGGTGGGATGGGGTGGACAGTGTGAAGGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990511_45990512insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC , CM000683.2:g.45990511_45990512insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC	GRCh38
NC_000021.8:g.47410425_47410426insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC , CM000683.1:g.47410425_47410426insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC	GRCh37
NC_000021.7:g.46234853_46234854insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC	NCBI36
NG_008674.1:g.13763_13764insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC , LRG_475:g.13763_13764insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC MANE Select	ENSP00000355180.3:n.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTG...
ENST00000361866.7:c.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC	ENSP00000355180.3:n.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTG...
ENST00000612273.1:c.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC	ENSP00000483630.1:n.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTG...
NM_001848.2:c.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC , LRG_475t1:c.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC	NP_001839.2:n.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGG...
NM_001848.3:c.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC MANE Select	NP_001839.2:n.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGG...