Canonical Allele Identifier: CA2392432089
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987547C= , CM000683.2:g.45987547C= GRCh38
NC_000021.8:g.47407461C= , CM000683.1:g.47407461C= GRCh37
NC_000021.7:g.46231889C= NCBI36
NG_008674.1:g.10799C= , LRG_475:g.10799C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.759+28C= MANE Select ENSP00000355180.3:n.759+28C=
ENST00000361866.7:c.759+28C= ENSP00000355180.3:n.759+28C=
ENST00000492851.1:n.411+28C=
ENST00000612273.1:c.759+28C= ENSP00000483630.1:n.759+28C=
NM_001848.2:c.759+28C= , LRG_475t1:c.759+28C= NP_001839.2:n.759+28C=
NM_001848.3:c.759+28C= MANE Select NP_001839.2:n.759+28C=
Search 100 bp 5'
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