Canonical Allele Identifier: CA920320827

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569517956

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987785_45987786insTGGCGGGGTCCAGATGGAGGGGA , CM000683.2:g.45987785_45987786insTGGCGGGGTCCAGATGGAGGGGA	GRCh38
NC_000021.8:g.47407699_47407700insTGGCGGGGTCCAGATGGAGGGGA , CM000683.1:g.47407699_47407700insTGGCGGGGTCCAGATGGAGGGGA	GRCh37
NC_000021.7:g.46232127_46232128insTGGCGGGGTCCAGATGGAGGGGA	NCBI36
NG_008674.1:g.11037_11038insTGGCGGGGTCCAGATGGAGGGGA , LRG_475:g.11037_11038insTGGCGGGGTCCAGATGGAGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA MANE Select	ENSP00000355180.3:n.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA...
ENST00000361866.7:c.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA	ENSP00000355180.3:n.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA...
ENST00000612273.1:c.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA	ENSP00000483630.1:n.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA...
NM_001848.2:c.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA , LRG_475t1:c.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA	NP_001839.2:n.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA
NM_001848.3:c.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA MANE Select	NP_001839.2:n.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA