Canonical Allele Identifier: CA2392434255

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990499_45990517delinsCGTGAAGGTGACCCGGGGA , CM000683.2:g.45990499_45990517delinsCGTGAAGGTGACCCGGGGA	GRCh38
NC_000021.8:g.47410413_47410431delinsCGTGAAGGTGACCCGGGGA , CM000683.1:g.47410413_47410431delinsCGTGAAGGTGACCCGGGGA	GRCh37
NC_000021.7:g.46234841_46234859delinsCGTGAAGGTGACCCGGGGA	NCBI36
NG_008674.1:g.13751_13769delinsCGTGAAGGTGACCCGGGGA , LRG_475:g.13751_13769delinsCGTGAAGGTGACCCGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA MANE Select	ENSP00000355180.3:n.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA
ENST00000361866.7:c.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA	ENSP00000355180.3:n.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA
ENST00000612273.1:c.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA	ENSP00000483630.1:n.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA
NM_001848.2:c.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA , LRG_475t1:c.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA	NP_001839.2:n.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA
NM_001848.3:c.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA MANE Select	NP_001839.2:n.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA