Canonical Allele Identifier: CA10070299
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224705
dbSNP Id: rs878854398

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997447del , CM000683.2:g.45997447del GRCh38
NC_000021.8:g.47417361del , CM000683.1:g.47417361del GRCh37
NC_000021.7:g.46241789del NCBI36
NG_008674.1:g.20699del , LRG_475:g.20699del

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.200del
ENST00000361866.8:c.1425del MANE Select ENSP00000355180.3:p.Gly476AlafsTer29
ENST00000361866.7:c.1425del ENSP00000355180.3:p.Gly476AlafsTer29
ENST00000612273.1:c.1425del ENSP00000483630.1:p.Gly476AlafsTer29
NM_001848.2:c.1425del , LRG_475t1:c.1425del NP_001839.2:p.Gly476AlafsTer29
NM_001848.3:c.1425del MANE Select NP_001839.2:p.Gly476AlafsTer29