Canonical Allele Identifier: CA2654957185

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987788-G-GTGGGGTCCAGATGGAGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987788_45987789insTGGGGTCCAGATGGAGGGGA , CM000683.2:g.45987788_45987789insTGGGGTCCAGATGGAGGGGA	GRCh38
NC_000021.8:g.47407702_47407703insTGGGGTCCAGATGGAGGGGA , CM000683.1:g.47407702_47407703insTGGGGTCCAGATGGAGGGGA	GRCh37
NC_000021.7:g.46232130_46232131insTGGGGTCCAGATGGAGGGGA	NCBI36
NG_008674.1:g.11040_11041insTGGGGTCCAGATGGAGGGGA , LRG_475:g.11040_11041insTGGGGTCCAGATGGAGGGGA

Transcript Alleles

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