Canonical Allele Identifier: CA2392432161
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987655G= , CM000683.2:g.45987655G= GRCh38
NC_000021.8:g.47407569G= , CM000683.1:g.47407569G= GRCh37
NC_000021.7:g.46231997G= NCBI36
NG_008674.1:g.10907G= , LRG_475:g.10907G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+1G= MANE Select ENSP00000355180.3:n.804+1G=
ENST00000361866.7:c.804+1G= ENSP00000355180.3:n.804+1G=
ENST00000612273.1:c.804+1G= ENSP00000483630.1:n.804+1G=
NM_001848.2:c.804+1G= , LRG_475t1:c.804+1G= NP_001839.2:n.804+1G=
NM_001848.3:c.804+1G= MANE Select NP_001839.2:n.804+1G=
Search 100 bp 5'
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