Canonical Allele Identifier: CA2392434209

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990470_45990490delinsGGCGAGATGGGGAGGGACGGA , CM000683.2:g.45990470_45990490delinsGGCGAGATGGGGAGGGACGGA	GRCh38
NC_000021.8:g.47410384_47410404delinsGGCGAGATGGGGAGGGACGGA , CM000683.1:g.47410384_47410404delinsGGCGAGATGGGGAGGGACGGA	GRCh37
NC_000021.7:g.46234812_46234832delinsGGCGAGATGGGGAGGGACGGA	NCBI36
NG_008674.1:g.13722_13742delinsGGCGAGATGGGGAGGGACGGA , LRG_475:g.13722_13742delinsGGCGAGATGGGGAGGGACGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA MANE Select	ENSP00000355180.3:n.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGG...
ENST00000361866.7:c.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA	ENSP00000355180.3:n.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGG...
ENST00000612273.1:c.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA	ENSP00000483630.1:n.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGG...
NM_001848.2:c.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA , LRG_475t1:c.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA	NP_001839.2:n.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA
NM_001848.3:c.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA MANE Select	NP_001839.2:n.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA