Canonical Allele Identifier: CA10605422
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286267
ClinVar RCV Id: RCV000262218
dbSNP Id: rs886043354
gnomAD v4: 21-45987622-CCTCCGGGG-C
MyVariant Identifiers: chr21:g.47407546_47407553del (hg19) chr21:g.45987632_45987639del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987632_45987639del , CM000683.2:g.45987632_45987639del GRCh38
NC_000021.8:g.47407546_47407553del , CM000683.1:g.47407546_47407553del GRCh37
NC_000021.7:g.46231974_46231981del NCBI36
NG_008674.1:g.10884_10891del , LRG_475:g.10884_10891del

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.782_789del MANE Select ENSP00000355180.3:p.Leu261ArgfsTer5
ENST00000361866.7:c.782_789del ENSP00000355180.3:p.Leu261ArgfsTer5
ENST00000612273.1:c.782_789del ENSP00000483630.1:p.Leu261ArgfsTer5
NM_001848.2:c.782_789del , LRG_475t1:c.782_789del NP_001839.2:p.Leu261ArgfsTer5
NM_001848.3:c.782_789del MANE Select NP_001839.2:p.Leu261ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'