Canonical Allele Identifier: CA2577628299

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984218_45984236del , CM000683.2:g.45984218_45984236del	GRCh38
NC_000021.8:g.47404132_47404150del , CM000683.1:g.47404132_47404150del	GRCh37
NC_000021.7:g.46228560_46228578del	NCBI36
NG_008674.1:g.7470_7488del , LRG_475:g.7470_7488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.228-51_228-33del MANE Select	ENSP00000355180.3:n.228-51_228-33del
ENST00000361866.7:c.228-51_228-33del	ENSP00000355180.3:n.228-51_228-33del
ENST00000612273.1:c.228-51_228-33del	ENSP00000483630.1:n.228-51_228-33del
NM_001848.2:c.228-51_228-33del , LRG_475t1:c.228-51_228-33del	NP_001839.2:n.228-51_228-33del
NM_001848.3:c.228-51_228-33del MANE Select	NP_001839.2:n.228-51_228-33del