Canonical Allele Identifier: CA2654957132

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987764-G-GGGGGGGTCCAGATGGAGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987764_45987765insGGGGGGTCCAGATGGAGGGGA , CM000683.2:g.45987764_45987765insGGGGGGTCCAGATGGAGGGGA	GRCh38
NC_000021.8:g.47407678_47407679insGGGGGGTCCAGATGGAGGGGA , CM000683.1:g.47407678_47407679insGGGGGGTCCAGATGGAGGGGA	GRCh37
NC_000021.7:g.46232106_46232107insGGGGGGTCCAGATGGAGGGGA	NCBI36
NG_008674.1:g.11016_11017insGGGGGGTCCAGATGGAGGGGA , LRG_475:g.11016_11017insGGGGGGTCCAGATGGAGGGGA

Transcript Alleles

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