Canonical Allele Identifier: CA2392434214

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990472_45990477delinsCGAGAT , CM000683.2:g.45990472_45990477delinsCGAGAT	GRCh38
NC_000021.8:g.47410386_47410391delinsCGAGAT , CM000683.1:g.47410386_47410391delinsCGAGAT	GRCh37
NC_000021.7:g.46234814_46234819delinsCGAGAT	NCBI36
NG_008674.1:g.13724_13729delinsCGAGAT , LRG_475:g.13724_13729delinsCGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+50_1002+55delinsCGAGAT MANE Select	ENSP00000355180.3:n.1002+50_1002+55delinsCGAGAT
ENST00000361866.7:c.1002+50_1002+55delinsCGAGAT	ENSP00000355180.3:n.1002+50_1002+55delinsCGAGAT
ENST00000612273.1:c.1002+50_1002+55delinsCGAGAT	ENSP00000483630.1:n.1002+50_1002+55delinsCGAGAT
NM_001848.2:c.1002+50_1002+55delinsCGAGAT , LRG_475t1:c.1002+50_1002+55delinsCGAGAT	NP_001839.2:n.1002+50_1002+55delinsCGAGAT
NM_001848.3:c.1002+50_1002+55delinsCGAGAT MANE Select	NP_001839.2:n.1002+50_1002+55delinsCGAGAT