Canonical Allele Identifier: CA2392434239

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990489_45990496delinsGAGTGGAC , CM000683.2:g.45990489_45990496delinsGAGTGGAC	GRCh38
NC_000021.8:g.47410403_47410410delinsGAGTGGAC , CM000683.1:g.47410403_47410410delinsGAGTGGAC	GRCh37
NC_000021.7:g.46234831_46234838delinsGAGTGGAC	NCBI36
NG_008674.1:g.13741_13748delinsGAGTGGAC , LRG_475:g.13741_13748delinsGAGTGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+67_1002+74delinsGAGTGGAC MANE Select	ENSP00000355180.3:n.1002+67_1002+74delinsGAGTGGAC
ENST00000361866.7:c.1002+67_1002+74delinsGAGTGGAC	ENSP00000355180.3:n.1002+67_1002+74delinsGAGTGGAC
ENST00000612273.1:c.1002+67_1002+74delinsGAGTGGAC	ENSP00000483630.1:n.1002+67_1002+74delinsGAGTGGAC
NM_001848.2:c.1002+67_1002+74delinsGAGTGGAC , LRG_475t1:c.1002+67_1002+74delinsGAGTGGAC	NP_001839.2:n.1002+67_1002+74delinsGAGTGGAC
NM_001848.3:c.1002+67_1002+74delinsGAGTGGAC MANE Select	NP_001839.2:n.1002+67_1002+74delinsGAGTGGAC