Canonical Allele Identifier: CA920320826

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569517954

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987770_45987771insCCCAGATGGAGGGGACGGCGGGG , CM000683.2:g.45987770_45987771insCCCAGATGGAGGGGACGGCGGGG	GRCh38
NC_000021.8:g.47407684_47407685insCCCAGATGGAGGGGACGGCGGGG , CM000683.1:g.47407684_47407685insCCCAGATGGAGGGGACGGCGGGG	GRCh37
NC_000021.7:g.46232112_46232113insCCCAGATGGAGGGGACGGCGGGG	NCBI36
NG_008674.1:g.11022_11023insCCCAGATGGAGGGGACGGCGGGG , LRG_475:g.11022_11023insCCCAGATGGAGGGGACGGCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG MANE Select	ENSP00000355180.3:n.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG...
ENST00000361866.7:c.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG	ENSP00000355180.3:n.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG...
ENST00000612273.1:c.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG	ENSP00000483630.1:n.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG...
NM_001848.2:c.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG , LRG_475t1:c.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG	NP_001839.2:n.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG
NM_001848.3:c.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG MANE Select	NP_001839.2:n.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG