Canonical Allele Identifier: CA2392434178

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990459_45990569delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG , CM000683.2:g.45990459_45990569delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	GRCh38
NC_000021.8:g.47410373_47410483delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG , CM000683.1:g.47410373_47410483delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	GRCh37
NC_000021.7:g.46234801_46234911delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	NCBI36
NG_008674.1:g.13711_13821delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG , LRG_475:g.13711_13821delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG MANE Select	ENSP00000355180.3:n.1002+37_1002+147delinsAGGAGGAATGGGGCGAGAT...
ENST00000361866.7:c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	ENSP00000355180.3:n.1002+37_1002+147delinsAGGAGGAATGGGGCGAGAT...
ENST00000612273.1:c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	ENSP00000483630.1:n.1002+37_1002+147delinsAGGAGGAATGGGGCGAGAT...
NM_001848.2:c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG , LRG_475t1:c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	NP_001839.2:n.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAG...
NM_001848.3:c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG MANE Select	NP_001839.2:n.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAG...