Canonical Allele Identifier: CA2392434147

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990433_45990438delinsGGAGAT , CM000683.2:g.45990433_45990438delinsGGAGAT	GRCh38
NC_000021.8:g.47410347_47410352delinsGGAGAT , CM000683.1:g.47410347_47410352delinsGGAGAT	GRCh37
NC_000021.7:g.46234775_46234780delinsGGAGAT	NCBI36
NG_008674.1:g.13685_13690delinsGGAGAT , LRG_475:g.13685_13690delinsGGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+11_1002+16delinsGGAGAT MANE Select	ENSP00000355180.3:n.1002+11_1002+16delinsGGAGAT
ENST00000361866.7:c.1002+11_1002+16delinsGGAGAT	ENSP00000355180.3:n.1002+11_1002+16delinsGGAGAT
ENST00000612273.1:c.1002+11_1002+16delinsGGAGAT	ENSP00000483630.1:n.1002+11_1002+16delinsGGAGAT
NM_001848.2:c.1002+11_1002+16delinsGGAGAT , LRG_475t1:c.1002+11_1002+16delinsGGAGAT	NP_001839.2:n.1002+11_1002+16delinsGGAGAT
NM_001848.3:c.1002+11_1002+16delinsGGAGAT MANE Select	NP_001839.2:n.1002+11_1002+16delinsGGAGAT