Canonical Allele Identifier: CA2392432241

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987788_45987789delinsGC , CM000683.2:g.45987788_45987789delinsGC	GRCh38
NC_000021.8:g.47407702_47407703delinsGC , CM000683.1:g.47407702_47407703delinsGC	GRCh37
NC_000021.7:g.46232130_46232131delinsGC	NCBI36
NG_008674.1:g.11040_11041delinsGC , LRG_475:g.11040_11041delinsGC

Transcript Alleles

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