Canonical Allele Identifier: CA2654957136

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987766-G-GGGGGTCCAGATGGAGGGGACGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987787_45987788insTCGGGGTCCAGATGGAGGGGACG , CM000683.2:g.45987787_45987788insTCGGGGTCCAGATGGAGGGGACG	GRCh38
NC_000021.8:g.47407701_47407702insTCGGGGTCCAGATGGAGGGGACG , CM000683.1:g.47407701_47407702insTCGGGGTCCAGATGGAGGGGACG	GRCh37
NC_000021.7:g.46232129_46232130insTCGGGGTCCAGATGGAGGGGACG	NCBI36
NG_008674.1:g.11039_11040insTCGGGGTCCAGATGGAGGGGACG , LRG_475:g.11039_11040insTCGGGGTCCAGATGGAGGGGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG MANE Select	ENSP00000355180.3:n.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG...
ENST00000361866.7:c.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG	ENSP00000355180.3:n.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG...
ENST00000612273.1:c.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG	ENSP00000483630.1:n.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG...
NM_001848.2:c.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG , LRG_475t1:c.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG	NP_001839.2:n.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG
NM_001848.3:c.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG MANE Select	NP_001839.2:n.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG