Canonical Allele Identifier: CA2392434169

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990453_45990553delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA , CM000683.2:g.45990453_45990553delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA	GRCh38
NC_000021.8:g.47410367_47410467delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA , CM000683.1:g.47410367_47410467delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA	GRCh37
NC_000021.7:g.46234795_46234895delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA	NCBI36
NG_008674.1:g.13705_13805delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA , LRG_475:g.13705_13805delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA MANE Select	ENSP00000355180.3:n.1002+31_1002+131delinsGGGACGAGGAGGAATGGGG...
ENST00000361866.7:c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA	ENSP00000355180.3:n.1002+31_1002+131delinsGGGACGAGGAGGAATGGGG...
ENST00000612273.1:c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA	ENSP00000483630.1:n.1002+31_1002+131delinsGGGACGAGGAGGAATGGGG...
NM_001848.2:c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA , LRG_475t1:c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA	NP_001839.2:n.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGAT...
NM_001848.3:c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA MANE Select	NP_001839.2:n.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGAT...