Canonical Allele Identifier: CA2392429879

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077723372

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984047_45984054del , CM000683.2:g.45984047_45984054del	GRCh38
NC_000021.8:g.47403961_47403968del , CM000683.1:g.47403961_47403968del	GRCh37
NC_000021.7:g.46228389_46228396del	NCBI36
NG_008674.1:g.7299_7306del , LRG_475:g.7299_7306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.228-222_228-215del MANE Select	ENSP00000355180.3:n.228-222_228-215del
ENST00000361866.7:c.228-222_228-215del	ENSP00000355180.3:n.228-222_228-215del
ENST00000612273.1:c.228-222_228-215del	ENSP00000483630.1:n.228-222_228-215del
NM_001848.2:c.228-222_228-215del , LRG_475t1:c.228-222_228-215del	NP_001839.2:n.228-222_228-215del
NM_001848.3:c.228-222_228-215del MANE Select	NP_001839.2:n.228-222_228-215del