Canonical Allele Identifier: CA2392434242

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990490_45990618delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG , CM000683.2:g.45990490_45990618delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG	GRCh38
NC_000021.8:g.47410404_47410532delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG , CM000683.1:g.47410404_47410532delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG	GRCh37
NC_000021.7:g.46234832_46234960delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG	NCBI36
NG_008674.1:g.13742_13870delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG , LRG_475:g.13742_13870delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG MANE Select	ENSP00000355180.3:n.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTG...
ENST00000361866.7:c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG	ENSP00000355180.3:n.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTG...
ENST00000612273.1:c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG	ENSP00000483630.1:n.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTG...
NM_001848.2:c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG , LRG_475t1:c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG	NP_001839.2:n.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGG...
NM_001848.3:c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG MANE Select	NP_001839.2:n.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGG...