Canonical Allele Identifier: CA2392429885
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984049T= , CM000683.2:g.45984049T= GRCh38
NC_000021.8:g.47403963T= , CM000683.1:g.47403963T= GRCh37
NC_000021.7:g.46228391T= NCBI36
NG_008674.1:g.7301T= , LRG_475:g.7301T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-220T= MANE Select ENSP00000355180.3:n.228-220T=
ENST00000361866.7:c.228-220T= ENSP00000355180.3:n.228-220T=
ENST00000612273.1:c.228-220T= ENSP00000483630.1:n.228-220T=
NM_001848.2:c.228-220T= , LRG_475t1:c.228-220T= NP_001839.2:n.228-220T=
NM_001848.3:c.228-220T= MANE Select NP_001839.2:n.228-220T=
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