Canonical Allele Identifier: CA2392432243

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987789_45987792delinsCGGG , CM000683.2:g.45987789_45987792delinsCGGG	GRCh38
NC_000021.8:g.47407703_47407706delinsCGGG , CM000683.1:g.47407703_47407706delinsCGGG	GRCh37
NC_000021.7:g.46232131_46232134delinsCGGG	NCBI36
NG_008674.1:g.11041_11044delinsCGGG , LRG_475:g.11041_11044delinsCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+135_804+138delinsCGGG MANE Select	ENSP00000355180.3:n.804+135_804+138delinsCGGG
ENST00000361866.7:c.804+135_804+138delinsCGGG	ENSP00000355180.3:n.804+135_804+138delinsCGGG
ENST00000612273.1:c.804+135_804+138delinsCGGG	ENSP00000483630.1:n.804+135_804+138delinsCGGG
NM_001848.2:c.804+135_804+138delinsCGGG , LRG_475t1:c.804+135_804+138delinsCGGG	NP_001839.2:n.804+135_804+138delinsCGGG
NM_001848.3:c.804+135_804+138delinsCGGG MANE Select	NP_001839.2:n.804+135_804+138delinsCGGG