Canonical Allele Identifier: CA2818096911

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987764_45987765insTGGGGGTCCAGATGGAGGGGA , CM000683.2:g.45987764_45987765insTGGGGGTCCAGATGGAGGGGA	GRCh38
NC_000021.8:g.47407678_47407679insTGGGGGTCCAGATGGAGGGGA , CM000683.1:g.47407678_47407679insTGGGGGTCCAGATGGAGGGGA	GRCh37
NC_000021.7:g.46232106_46232107insTGGGGGTCCAGATGGAGGGGA	NCBI36
NG_008674.1:g.11016_11017insTGGGGGTCCAGATGGAGGGGA , LRG_475:g.11016_11017insTGGGGGTCCAGATGGAGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+110_804+111insTGGGGGTCCAGATGGAGGGGA MANE Select	ENSP00000355180.3:n.804+110_804+111insTGGGGGTCCAGATGGAGGGGA
ENST00000361866.7:c.804+110_804+111insTGGGGGTCCAGATGGAGGGGA	ENSP00000355180.3:n.804+110_804+111insTGGGGGTCCAGATGGAGGGGA
ENST00000612273.1:c.804+110_804+111insTGGGGGTCCAGATGGAGGGGA	ENSP00000483630.1:n.804+110_804+111insTGGGGGTCCAGATGGAGGGGA
NM_001848.2:c.804+110_804+111insTGGGGGTCCAGATGGAGGGGA , LRG_475t1:c.804+110_804+111insTGGGGGTCCAGATGGAGGGGA	NP_001839.2:n.804+110_804+111insTGGGGGTCCAGATGGAGGGGA
NM_001848.3:c.804+110_804+111insTGGGGGTCCAGATGGAGGGGA MANE Select	NP_001839.2:n.804+110_804+111insTGGGGGTCCAGATGGAGGGGA