Canonical Allele Identifier: CA2654959365
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-46001414-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001416del , CM000683.2:g.46001416del GRCh38
NC_000021.8:g.47421330del , CM000683.1:g.47421330del GRCh37
NC_000021.7:g.46245758del NCBI36
NG_008674.1:g.24668del , LRG_475:g.24668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.355+30del
ENST00000612273.2:c.82+30del
ENST00000682634.1:c.82+30del
ENST00000361866.8:c.1956+30del MANE Select ENSP00000355180.3:n.1956+30del
ENST00000361866.7:c.1956+30del ENSP00000355180.3:n.1956+30del
ENST00000463060.5:n.355+30del
ENST00000498614.5:n.190+30del
ENST00000612273.1:c.1950+30del ENSP00000483630.1:n.1950+30del
NM_001848.2:c.1956+30del , LRG_475t1:c.1956+30del NP_001839.2:n.1956+30del
NM_001848.3:c.1956+30del MANE Select NP_001839.2:n.1956+30del
Search 100 bp 5'
Search 100 bp 3'