Canonical Allele Identifier: CA2392434136

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990426_45990510delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC , CM000683.2:g.45990426_45990510delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC	GRCh38
NC_000021.8:g.47410340_47410424delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC , CM000683.1:g.47410340_47410424delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC	GRCh37
NC_000021.7:g.46234768_46234852delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC	NCBI36
NG_008674.1:g.13678_13762delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC , LRG_475:g.13678_13762delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC MANE Select	ENSP00000355180.3:n.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGA...
ENST00000361866.7:c.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC	ENSP00000355180.3:n.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGA...
ENST00000612273.1:c.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC	ENSP00000483630.1:n.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGA...
NM_001848.2:c.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC , LRG_475t1:c.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC	NP_001839.2:n.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGA...
NM_001848.3:c.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC MANE Select	NP_001839.2:n.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGA...