Canonical Allele Identifier: CA2840050676
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001305del , CM000683.2:g.46001305del GRCh38
NC_000021.8:g.47421219del , CM000683.1:g.47421219del GRCh37
NC_000021.7:g.46245647del NCBI36
NG_008674.1:g.24557del , LRG_475:g.24557del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.274del
ENST00000612273.2:c.1del
ENST00000682634.1:c.1del
ENST00000361866.8:c.1875del MANE Select ENSP00000355180.3:p.Ser625ArgfsTer21
ENST00000361866.7:c.1875del ENSP00000355180.3:p.Ser625ArgfsTer21
ENST00000463060.5:n.274del
ENST00000498614.5:n.109del
ENST00000612273.1:c.1869del ENSP00000483630.1:p.Ser623ArgfsTer21
NM_001848.2:c.1875del , LRG_475t1:c.1875del NP_001839.2:p.Ser625ArgfsTer21
NM_001848.3:c.1875del MANE Select NP_001839.2:p.Ser625ArgfsTer21
Search 100 bp 5'
Search 100 bp 3'