Canonical Allele Identifier: CA10069519
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs759518534
ExAC: 21:47404242 AG / A
gnomAD v2: 21-47404242-AG-A
gnomAD v4: 21-45984328-AG-A
MyVariant Identifiers: chr21:g.47404243del (hg19) chr21:g.45984329del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984330del , CM000683.2:g.45984330del GRCh38
NC_000021.8:g.47404244del , CM000683.1:g.47404244del GRCh37
NC_000021.7:g.46228672del NCBI36
NG_008674.1:g.7582del , LRG_475:g.7582del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.289del MANE Select ENSP00000355180.3:p.Val97TrpfsTer?
ENST00000361866.7:c.289del ENSP00000355180.3:p.Val97TrpfsTer?
ENST00000612273.1:c.289del ENSP00000483630.1:p.Val97TrpfsTer?
NM_001848.2:c.289del , LRG_475t1:c.289del NP_001839.2:p.Val97TrpfsTer?
NM_001848.3:c.289del MANE Select NP_001839.2:p.Val97TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'