Canonical Allele Identifier: CA2654957210

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987794-G-GATGGAGGGGACGGCGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987794_45987795insATGGAGGGGACGGCGGGGC , CM000683.2:g.45987794_45987795insATGGAGGGGACGGCGGGGC	GRCh38
NC_000021.8:g.47407708_47407709insATGGAGGGGACGGCGGGGC , CM000683.1:g.47407708_47407709insATGGAGGGGACGGCGGGGC	GRCh37
NC_000021.7:g.46232136_46232137insATGGAGGGGACGGCGGGGC	NCBI36
NG_008674.1:g.11046_11047insATGGAGGGGACGGCGGGGC , LRG_475:g.11046_11047insATGGAGGGGACGGCGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+140_804+141insATGGAGGGGACGGCGGGGC MANE Select	ENSP00000355180.3:n.804+140_804+141insATGGAGGGGACGGCGGGGC
ENST00000361866.7:c.804+140_804+141insATGGAGGGGACGGCGGGGC	ENSP00000355180.3:n.804+140_804+141insATGGAGGGGACGGCGGGGC
ENST00000612273.1:c.804+140_804+141insATGGAGGGGACGGCGGGGC	ENSP00000483630.1:n.804+140_804+141insATGGAGGGGACGGCGGGGC
NM_001848.2:c.804+140_804+141insATGGAGGGGACGGCGGGGC , LRG_475t1:c.804+140_804+141insATGGAGGGGACGGCGGGGC	NP_001839.2:n.804+140_804+141insATGGAGGGGACGGCGGGGC
NM_001848.3:c.804+140_804+141insATGGAGGGGACGGCGGGGC MANE Select	NP_001839.2:n.804+140_804+141insATGGAGGGGACGGCGGGGC