Canonical Allele Identifier: CA2654956351
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984484del , CM000683.2:g.45984484del GRCh38
NC_000021.8:g.47404398del , CM000683.1:g.47404398del GRCh37
NC_000021.7:g.46228826del NCBI36
NG_008674.1:g.7736del , LRG_475:g.7736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.428+15del MANE Select ENSP00000355180.3:n.428+15del
ENST00000361866.7:c.428+15del ENSP00000355180.3:n.428+15del
ENST00000612273.1:c.428+15del ENSP00000483630.1:n.428+15del
NM_001848.2:c.428+15del , LRG_475t1:c.428+15del NP_001839.2:n.428+15del
NM_001848.3:c.428+15del MANE Select NP_001839.2:n.428+15del