Canonical Allele Identifier: CA2392429979

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984232_45984243delinsCCGCCCGCCTCA , CM000683.2:g.45984232_45984243delinsCCGCCCGCCTCA	GRCh38
NC_000021.8:g.47404146_47404157delinsCCGCCCGCCTCA , CM000683.1:g.47404146_47404157delinsCCGCCCGCCTCA	GRCh37
NC_000021.7:g.46228574_46228585delinsCCGCCCGCCTCA	NCBI36
NG_008674.1:g.7484_7495delinsCCGCCCGCCTCA , LRG_475:g.7484_7495delinsCCGCCCGCCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.228-37_228-26delinsCCGCCCGCCTCA MANE Select	ENSP00000355180.3:n.228-37_228-26delinsCCGCCCGCCTCA
ENST00000361866.7:c.228-37_228-26delinsCCGCCCGCCTCA	ENSP00000355180.3:n.228-37_228-26delinsCCGCCCGCCTCA
ENST00000612273.1:c.228-37_228-26delinsCCGCCCGCCTCA	ENSP00000483630.1:n.228-37_228-26delinsCCGCCCGCCTCA
NM_001848.2:c.228-37_228-26delinsCCGCCCGCCTCA , LRG_475t1:c.228-37_228-26delinsCCGCCCGCCTCA	NP_001839.2:n.228-37_228-26delinsCCGCCCGCCTCA
NM_001848.3:c.228-37_228-26delinsCCGCCCGCCTCA MANE Select	NP_001839.2:n.228-37_228-26delinsCCGCCCGCCTCA