Canonical Allele Identifier: CA920320856

Gene: COL6A1

Linked Data

• dbSNP Id: rs1556425267

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987979_45987980delinsA , CM000683.2:g.45987979_45987980delinsA	GRCh38
NC_000021.8:g.47407893_47407894delinsA , CM000683.1:g.47407893_47407894delinsA	GRCh37
NC_000021.7:g.46232321_46232322delinsA	NCBI36
NG_008674.1:g.11231_11232delinsA , LRG_475:g.11231_11232delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+325_804+326delinsA MANE Select	ENSP00000355180.3:n.804+325_804+326delinsA
ENST00000361866.7:c.804+325_804+326delinsA	ENSP00000355180.3:n.804+325_804+326delinsA
ENST00000612273.1:c.804+325_804+326delinsA	ENSP00000483630.1:n.804+325_804+326delinsA
NM_001848.2:c.804+325_804+326delinsA , LRG_475t1:c.804+325_804+326delinsA	NP_001839.2:n.804+325_804+326delinsA
NM_001848.3:c.804+325_804+326delinsA MANE Select	NP_001839.2:n.804+325_804+326delinsA