Canonical Allele Identifier: CA2697547633
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2710392
ClinVar RCV Id: RCV003518171
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984351dup , CM000683.2:g.45984351dup GRCh38
NC_000021.8:g.47404265dup , CM000683.1:g.47404265dup GRCh37
NC_000021.7:g.46228693dup NCBI36
NG_008674.1:g.7603dup , LRG_475:g.7603dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.310dup MANE Select ENSP00000355180.3:p.Thr104AsnfsTer?
ENST00000361866.7:c.310dup ENSP00000355180.3:p.Thr104AsnfsTer?
ENST00000612273.1:c.310dup ENSP00000483630.1:p.Thr104AsnfsTer?
NM_001848.2:c.310dup , LRG_475t1:c.310dup NP_001839.2:p.Thr104AsnfsTer?
NM_001848.3:c.310dup MANE Select NP_001839.2:p.Thr104AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'