Canonical Allele Identifier: CA2392434224

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990480_45990490delinsGGAGGGACGGA , CM000683.2:g.45990480_45990490delinsGGAGGGACGGA	GRCh38
NC_000021.8:g.47410394_47410404delinsGGAGGGACGGA , CM000683.1:g.47410394_47410404delinsGGAGGGACGGA	GRCh37
NC_000021.7:g.46234822_46234832delinsGGAGGGACGGA	NCBI36
NG_008674.1:g.13732_13742delinsGGAGGGACGGA , LRG_475:g.13732_13742delinsGGAGGGACGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+58_1002+68delinsGGAGGGACGGA MANE Select	ENSP00000355180.3:n.1002+58_1002+68delinsGGAGGGACGGA
ENST00000361866.7:c.1002+58_1002+68delinsGGAGGGACGGA	ENSP00000355180.3:n.1002+58_1002+68delinsGGAGGGACGGA
ENST00000612273.1:c.1002+58_1002+68delinsGGAGGGACGGA	ENSP00000483630.1:n.1002+58_1002+68delinsGGAGGGACGGA
NM_001848.2:c.1002+58_1002+68delinsGGAGGGACGGA , LRG_475t1:c.1002+58_1002+68delinsGGAGGGACGGA	NP_001839.2:n.1002+58_1002+68delinsGGAGGGACGGA
NM_001848.3:c.1002+58_1002+68delinsGGAGGGACGGA MANE Select	NP_001839.2:n.1002+58_1002+68delinsGGAGGGACGGA