Canonical Allele Identifier: CA2392440359
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001198G= , CM000683.2:g.46001198G= GRCh38
NC_000021.8:g.47421112G= , CM000683.1:g.47421112G= GRCh37
NC_000021.7:g.46245540G= NCBI36
NG_008674.1:g.24450G= , LRG_475:g.24450G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.221+47G=
ENST00000361866.8:c.1823-55G= MANE Select ENSP00000355180.3:n.1823-55G=
ENST00000361866.7:c.1823-55G= ENSP00000355180.3:n.1823-55G=
ENST00000463060.5:n.221+47G=
ENST00000498614.5:n.2G=
ENST00000612273.1:c.1817-55G= ENSP00000483630.1:n.1817-55G=
NM_001848.2:c.1823-55G= , LRG_475t1:c.1823-55G= NP_001839.2:n.1823-55G=
NM_001848.3:c.1823-55G= MANE Select NP_001839.2:n.1823-55G=
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