Canonical Allele Identifier: CA2392429849
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45983975C= , CM000683.2:g.45983975C= GRCh38
NC_000021.8:g.47403889C= , CM000683.1:g.47403889C= GRCh37
NC_000021.7:g.46228317C= NCBI36
NG_008674.1:g.7227C= , LRG_475:g.7227C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-294C= MANE Select ENSP00000355180.3:n.228-294C=
ENST00000361866.7:c.228-294C= ENSP00000355180.3:n.228-294C=
ENST00000612273.1:c.228-294C= ENSP00000483630.1:n.228-294C=
NM_001848.2:c.228-294C= , LRG_475t1:c.228-294C= NP_001839.2:n.228-294C=
NM_001848.3:c.228-294C= MANE Select NP_001839.2:n.228-294C=
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