Canonical Allele Identifier: CA2654957159
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45987770-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987771del , CM000683.2:g.45987771del GRCh38
NC_000021.8:g.47407685del , CM000683.1:g.47407685del GRCh37
NC_000021.7:g.46232113del NCBI36
NG_008674.1:g.11023del , LRG_475:g.11023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+117del MANE Select ENSP00000355180.3:n.804+117del
ENST00000361866.7:c.804+117del ENSP00000355180.3:n.804+117del
ENST00000612273.1:c.804+117del ENSP00000483630.1:n.804+117del
NM_001848.2:c.804+117del , LRG_475t1:c.804+117del NP_001839.2:n.804+117del
NM_001848.3:c.804+117del MANE Select NP_001839.2:n.804+117del
Search 100 bp 5'
Search 100 bp 3'