Canonical Allele Identifier: CA2654957140

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987766-G-GGGGGTCCAGATGGAGGGGACGGTGGGGGTCCAGATGGAGGGGACGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987788_45987789insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG , CM000683.2:g.45987788_45987789insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG	GRCh38
NC_000021.8:g.47407702_47407703insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG , CM000683.1:g.47407702_47407703insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG	GRCh37
NC_000021.7:g.46232130_46232131insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG	NCBI36
NG_008674.1:g.11040_11041insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG , LRG_475:g.11040_11041insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG MANE Select	ENSP00000355180.3:n.804+134_804+135insTGGGGGTCCAGATGGAGGGGACG...
ENST00000361866.7:c.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG	ENSP00000355180.3:n.804+134_804+135insTGGGGGTCCAGATGGAGGGGACG...
ENST00000612273.1:c.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG	ENSP00000483630.1:n.804+134_804+135insTGGGGGTCCAGATGGAGGGGACG...
NM_001848.2:c.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG , LRG_475t1:c.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG	NP_001839.2:n.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGG...
NM_001848.3:c.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG MANE Select	NP_001839.2:n.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGG...