Canonical Allele Identifier: CA2558598366

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990456_45990457insTGGGGTGAGGTGATGC , CM000683.2:g.45990456_45990457insTGGGGTGAGGTGATGC	GRCh38
NC_000021.8:g.47410370_47410371insTGGGGTGAGGTGATGC , CM000683.1:g.47410370_47410371insTGGGGTGAGGTGATGC	GRCh37
NC_000021.7:g.46234798_46234799insTGGGGTGAGGTGATGC	NCBI36
NG_008674.1:g.13708_13709insTGGGGTGAGGTGATGC , LRG_475:g.13708_13709insTGGGGTGAGGTGATGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+34_1002+35insTGGGGTGAGGTGATGC MANE Select	ENSP00000355180.3:n.1002+34_1002+35insTGGGGTGAGGTGATGC
ENST00000361866.7:c.1002+34_1002+35insTGGGGTGAGGTGATGC	ENSP00000355180.3:n.1002+34_1002+35insTGGGGTGAGGTGATGC
ENST00000612273.1:c.1002+34_1002+35insTGGGGTGAGGTGATGC	ENSP00000483630.1:n.1002+34_1002+35insTGGGGTGAGGTGATGC
NM_001848.2:c.1002+34_1002+35insTGGGGTGAGGTGATGC , LRG_475t1:c.1002+34_1002+35insTGGGGTGAGGTGATGC	NP_001839.2:n.1002+34_1002+35insTGGGGTGAGGTGATGC
NM_001848.3:c.1002+34_1002+35insTGGGGTGAGGTGATGC MANE Select	NP_001839.2:n.1002+34_1002+35insTGGGGTGAGGTGATGC