Canonical Allele Identifier: CA2392434195

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990472delinsGAATGGGGC , CM000683.2:g.45990464_45990472delinsGAATGGGGC	GRCh38
NC_000021.8:g.47410378_47410386delinsGAATGGGGC , CM000683.1:g.47410378_47410386delinsGAATGGGGC	GRCh37
NC_000021.7:g.46234806_46234814delinsGAATGGGGC	NCBI36
NG_008674.1:g.13716_13724delinsGAATGGGGC , LRG_475:g.13716_13724delinsGAATGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+42_1002+50delinsGAATGGGGC MANE Select	ENSP00000355180.3:n.1002+42_1002+50delinsGAATGGGGC
ENST00000361866.7:c.1002+42_1002+50delinsGAATGGGGC	ENSP00000355180.3:n.1002+42_1002+50delinsGAATGGGGC
ENST00000612273.1:c.1002+42_1002+50delinsGAATGGGGC	ENSP00000483630.1:n.1002+42_1002+50delinsGAATGGGGC
NM_001848.2:c.1002+42_1002+50delinsGAATGGGGC , LRG_475t1:c.1002+42_1002+50delinsGAATGGGGC	NP_001839.2:n.1002+42_1002+50delinsGAATGGGGC
NM_001848.3:c.1002+42_1002+50delinsGAATGGGGC MANE Select	NP_001839.2:n.1002+42_1002+50delinsGAATGGGGC