Canonical Allele Identifier: CA2392432266
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987795T= , CM000683.2:g.45987795T= GRCh38
NC_000021.8:g.47407709T= , CM000683.1:g.47407709T= GRCh37
NC_000021.7:g.46232137T= NCBI36
NG_008674.1:g.11047T= , LRG_475:g.11047T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+141T= MANE Select ENSP00000355180.3:n.804+141T=
ENST00000361866.7:c.804+141T= ENSP00000355180.3:n.804+141T=
ENST00000612273.1:c.804+141T= ENSP00000483630.1:n.804+141T=
NM_001848.2:c.804+141T= , LRG_475t1:c.804+141T= NP_001839.2:n.804+141T=
NM_001848.3:c.804+141T= MANE Select NP_001839.2:n.804+141T=
Search 100 bp 5'
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