Canonical Allele Identifier: CA2392434171

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990455_45990465delinsGACGAGGAGGA , CM000683.2:g.45990455_45990465delinsGACGAGGAGGA	GRCh38
NC_000021.8:g.47410369_47410379delinsGACGAGGAGGA , CM000683.1:g.47410369_47410379delinsGACGAGGAGGA	GRCh37
NC_000021.7:g.46234797_46234807delinsGACGAGGAGGA	NCBI36
NG_008674.1:g.13707_13717delinsGACGAGGAGGA , LRG_475:g.13707_13717delinsGACGAGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+33_1002+43delinsGACGAGGAGGA MANE Select	ENSP00000355180.3:n.1002+33_1002+43delinsGACGAGGAGGA
ENST00000361866.7:c.1002+33_1002+43delinsGACGAGGAGGA	ENSP00000355180.3:n.1002+33_1002+43delinsGACGAGGAGGA
ENST00000612273.1:c.1002+33_1002+43delinsGACGAGGAGGA	ENSP00000483630.1:n.1002+33_1002+43delinsGACGAGGAGGA
NM_001848.2:c.1002+33_1002+43delinsGACGAGGAGGA , LRG_475t1:c.1002+33_1002+43delinsGACGAGGAGGA	NP_001839.2:n.1002+33_1002+43delinsGACGAGGAGGA
NM_001848.3:c.1002+33_1002+43delinsGACGAGGAGGA MANE Select	NP_001839.2:n.1002+33_1002+43delinsGACGAGGAGGA