Canonical Allele Identifier: CA2392440342

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001170_46001192delinsAGGAGGGGCCAGGGCGGTGGAGG , CM000683.2:g.46001170_46001192delinsAGGAGGGGCCAGGGCGGTGGAGG	GRCh38
NC_000021.8:g.47421084_47421106delinsAGGAGGGGCCAGGGCGGTGGAGG , CM000683.1:g.47421084_47421106delinsAGGAGGGGCCAGGGCGGTGGAGG	GRCh37
NC_000021.7:g.46245512_46245534delinsAGGAGGGGCCAGGGCGGTGGAGG	NCBI36
NG_008674.1:g.24422_24444delinsAGGAGGGGCCAGGGCGGTGGAGG , LRG_475:g.24422_24444delinsAGGAGGGGCCAGGGCGGTGGAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000463060.6:n.221+19_221+41delinsAGGAGGGGCCAGGGCGGTGGAGG
ENST00000361866.8:c.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGGAGG MANE Select	ENSP00000355180.3:n.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGG...
ENST00000361866.7:c.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGGAGG	ENSP00000355180.3:n.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGG...
ENST00000463060.5:n.221+19_221+41delinsAGGAGGGGCCAGGGCGGTGGAGG
ENST00000612273.1:c.1817-83_1817-61delinsAGGAGGGGCCAGGGCGGTGGAGG	ENSP00000483630.1:n.1817-83_1817-61delinsAGGAGGGGCCAGGGCGGTGG...
NM_001848.2:c.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGGAGG , LRG_475t1:c.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGGAGG	NP_001839.2:n.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGGAGG
NM_001848.3:c.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGGAGG MANE Select	NP_001839.2:n.1823-83_1823-61delinsAGGAGGGGCCAGGGCGGTGGAGG