Canonical Allele Identifier: CA2392432248

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987790_45987883delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC , CM000683.2:g.45987790_45987883delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC	GRCh38
NC_000021.8:g.47407704_47407797delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC , CM000683.1:g.47407704_47407797delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC	GRCh37
NC_000021.7:g.46232132_46232225delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC	NCBI36
NG_008674.1:g.11042_11135delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC , LRG_475:g.11042_11135delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC MANE Select	ENSP00000355180.3:n.804+136_804+229delinsGGGGGTCCAGATGGAGGGGA...
ENST00000361866.7:c.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC	ENSP00000355180.3:n.804+136_804+229delinsGGGGGTCCAGATGGAGGGGA...
ENST00000612273.1:c.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC	ENSP00000483630.1:n.804+136_804+229delinsGGGGGTCCAGATGGAGGGGA...
NM_001848.2:c.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC , LRG_475t1:c.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC	NP_001839.2:n.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGG...
NM_001848.3:c.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC MANE Select	NP_001839.2:n.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGG...