Canonical Allele Identifier: CA2392432370

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987882_45987974delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT , CM000683.2:g.45987882_45987974delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT	GRCh38
NC_000021.8:g.47407796_47407888delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT , CM000683.1:g.47407796_47407888delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT	GRCh37
NC_000021.7:g.46232224_46232316delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT	NCBI36
NG_008674.1:g.11134_11226delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT , LRG_475:g.11134_11226delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT MANE Select	ENSP00000355180.3:n.804+228_804+320delinsGCGGGGTCCAGATGGAGGGG...
ENST00000361866.7:c.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT	ENSP00000355180.3:n.804+228_804+320delinsGCGGGGTCCAGATGGAGGGG...
ENST00000612273.1:c.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT	ENSP00000483630.1:n.804+228_804+320delinsGCGGGGTCCAGATGGAGGGG...
NM_001848.2:c.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT , LRG_475t1:c.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT	NP_001839.2:n.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCG...
NM_001848.3:c.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT MANE Select	NP_001839.2:n.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCG...