Canonical Allele Identifier: CA2580098947
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1711102
ClinVar RCV Id: RCV002292403

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990411_45990419del , CM000683.2:g.45990411_45990419del GRCh38
NC_000021.8:g.47410325_47410333del , CM000683.1:g.47410325_47410333del GRCh37
NC_000021.7:g.46234753_46234761del NCBI36
NG_008674.1:g.13663_13671del , LRG_475:g.13663_13671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.991_999del MANE Select ENSP00000355180.3:p.Asp331_Val333del
ENST00000361866.7:c.991_999del ENSP00000355180.3:p.Asp331_Val333del
ENST00000612273.1:c.991_999del ENSP00000483630.1:p.Asp331_Val333del
NM_001848.2:c.991_999del , LRG_475t1:c.991_999del NP_001839.2:p.Asp331_Val333del
NM_001848.3:c.991_999del MANE Select NP_001839.2:p.Asp331_Val333del