Canonical Allele Identifier: CA916081963

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 854116
• ClinVar RCV Id: RCV001059085
• dbSNP Id: rs2077768137

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990427_45990428insCCGGGGAGGGA , CM000683.2:g.45990427_45990428insCCGGGGAGGGA	GRCh38
NC_000021.8:g.47410341_47410342insCCGGGGAGGGA , CM000683.1:g.47410341_47410342insCCGGGGAGGGA	GRCh37
NC_000021.7:g.46234769_46234770insCCGGGGAGGGA	NCBI36
NG_008674.1:g.13679_13680insCCGGGGAGGGA , LRG_475:g.13679_13680insCCGGGGAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+5_1002+6insCCGGGGAGGGA MANE Select	ENSP00000355180.3:n.1002+5_1002+6insCCGGGGAGGGA
ENST00000361866.7:c.1002+5_1002+6insCCGGGGAGGGA	ENSP00000355180.3:n.1002+5_1002+6insCCGGGGAGGGA
ENST00000612273.1:c.1002+5_1002+6insCCGGGGAGGGA	ENSP00000483630.1:n.1002+5_1002+6insCCGGGGAGGGA
NM_001848.2:c.1002+5_1002+6insCCGGGGAGGGA , LRG_475t1:c.1002+5_1002+6insCCGGGGAGGGA	NP_001839.2:n.1002+5_1002+6insCCGGGGAGGGA
NM_001848.3:c.1002+5_1002+6insCCGGGGAGGGA MANE Select	NP_001839.2:n.1002+5_1002+6insCCGGGGAGGGA