Canonical Allele Identifier: CA2392434186

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990461_45990467delinsGAGGAAT , CM000683.2:g.45990461_45990467delinsGAGGAAT	GRCh38
NC_000021.8:g.47410375_47410381delinsGAGGAAT , CM000683.1:g.47410375_47410381delinsGAGGAAT	GRCh37
NC_000021.7:g.46234803_46234809delinsGAGGAAT	NCBI36
NG_008674.1:g.13713_13719delinsGAGGAAT , LRG_475:g.13713_13719delinsGAGGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+39_1002+45delinsGAGGAAT MANE Select	ENSP00000355180.3:n.1002+39_1002+45delinsGAGGAAT
ENST00000361866.7:c.1002+39_1002+45delinsGAGGAAT	ENSP00000355180.3:n.1002+39_1002+45delinsGAGGAAT
ENST00000612273.1:c.1002+39_1002+45delinsGAGGAAT	ENSP00000483630.1:n.1002+39_1002+45delinsGAGGAAT
NM_001848.2:c.1002+39_1002+45delinsGAGGAAT , LRG_475t1:c.1002+39_1002+45delinsGAGGAAT	NP_001839.2:n.1002+39_1002+45delinsGAGGAAT
NM_001848.3:c.1002+39_1002+45delinsGAGGAAT MANE Select	NP_001839.2:n.1002+39_1002+45delinsGAGGAAT