Canonical Allele Identifier: CA2654957119

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987754-A-AGAGGGGACGGCGGGGTCCAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987769_45987770insTCCAGATGGAGGGGACGGCGGGG , CM000683.2:g.45987769_45987770insTCCAGATGGAGGGGACGGCGGGG	GRCh38
NC_000021.8:g.47407683_47407684insTCCAGATGGAGGGGACGGCGGGG , CM000683.1:g.47407683_47407684insTCCAGATGGAGGGGACGGCGGGG	GRCh37
NC_000021.7:g.46232111_46232112insTCCAGATGGAGGGGACGGCGGGG	NCBI36
NG_008674.1:g.11021_11022insTCCAGATGGAGGGGACGGCGGGG , LRG_475:g.11021_11022insTCCAGATGGAGGGGACGGCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG MANE Select	ENSP00000355180.3:n.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG...
ENST00000361866.7:c.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG	ENSP00000355180.3:n.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG...
ENST00000612273.1:c.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG	ENSP00000483630.1:n.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG...
NM_001848.2:c.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG , LRG_475t1:c.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG	NP_001839.2:n.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG
NM_001848.3:c.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG MANE Select	NP_001839.2:n.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG