Canonical Allele Identifier: CA2392434246

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990492_45990512delinsTGGACGGCGTGAAGGTGACCC , CM000683.2:g.45990492_45990512delinsTGGACGGCGTGAAGGTGACCC	GRCh38
NC_000021.8:g.47410406_47410426delinsTGGACGGCGTGAAGGTGACCC , CM000683.1:g.47410406_47410426delinsTGGACGGCGTGAAGGTGACCC	GRCh37
NC_000021.7:g.46234834_46234854delinsTGGACGGCGTGAAGGTGACCC	NCBI36
NG_008674.1:g.13744_13764delinsTGGACGGCGTGAAGGTGACCC , LRG_475:g.13744_13764delinsTGGACGGCGTGAAGGTGACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC MANE Select	ENSP00000355180.3:n.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACC...
ENST00000361866.7:c.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC	ENSP00000355180.3:n.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACC...
ENST00000612273.1:c.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC	ENSP00000483630.1:n.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACC...
NM_001848.2:c.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC , LRG_475t1:c.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC	NP_001839.2:n.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC
NM_001848.3:c.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC MANE Select	NP_001839.2:n.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC