Canonical Allele Identifier: CA920320824

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569517955
• gnomAD v4: 21-45987766-G-GGGGGTCCAGAGGGAGGGGACGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987776_45987777insGGGAGGGGACGGCGGGGTCCAGA , CM000683.2:g.45987776_45987777insGGGAGGGGACGGCGGGGTCCAGA	GRCh38
NC_000021.8:g.47407690_47407691insGGGAGGGGACGGCGGGGTCCAGA , CM000683.1:g.47407690_47407691insGGGAGGGGACGGCGGGGTCCAGA	GRCh37
NC_000021.7:g.46232118_46232119insGGGAGGGGACGGCGGGGTCCAGA	NCBI36
NG_008674.1:g.11028_11029insGGGAGGGGACGGCGGGGTCCAGA , LRG_475:g.11028_11029insGGGAGGGGACGGCGGGGTCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA MANE Select	ENSP00000355180.3:n.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA...
ENST00000361866.7:c.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA	ENSP00000355180.3:n.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA...
ENST00000612273.1:c.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA	ENSP00000483630.1:n.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA...
NM_001848.2:c.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA , LRG_475t1:c.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA	NP_001839.2:n.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA
NM_001848.3:c.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA MANE Select	NP_001839.2:n.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA