Canonical Allele Identifier: CA658799470
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499871
ClinVar RCV Id: RCV000596967 RCV002468590
dbSNP Id: rs1556425853
MyVariant Identifiers: chr21:g.47410741del (hg19) chr21:g.45990827del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990827del , CM000683.2:g.45990827del GRCh38
NC_000021.8:g.47410741del , CM000683.1:g.47410741del GRCh37
NC_000021.7:g.46235169del NCBI36
NG_008674.1:g.14079del , LRG_475:g.14079del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1056+1del MANE Select ENSP00000355180.3:n.1056+1del
ENST00000361866.7:c.1056+1del ENSP00000355180.3:n.1056+1del
ENST00000612273.1:c.1056+1del ENSP00000483630.1:n.1056+1del
NM_001848.2:c.1056+1del , LRG_475t1:c.1056+1del NP_001839.2:n.1056+1del
NM_001848.3:c.1056+1del MANE Select NP_001839.2:n.1056+1del
Search 100 bp 5'
Search 100 bp 3'