Canonical Allele Identifier: CA1022878112
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs66929103
gnomAD v3: 21-45987789-CGGG-C
gnomAD v4: 21-45987789-CGGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987792_45987794del , CM000683.2:g.45987792_45987794del GRCh38
NC_000021.8:g.47407706_47407708del , CM000683.1:g.47407706_47407708del GRCh37
NC_000021.7:g.46232134_46232136del NCBI36
NG_008674.1:g.11044_11046del , LRG_475:g.11044_11046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+138_804+140del MANE Select ENSP00000355180.3:n.804+138_804+140del
ENST00000361866.7:c.804+138_804+140del ENSP00000355180.3:n.804+138_804+140del
ENST00000612273.1:c.804+138_804+140del ENSP00000483630.1:n.804+138_804+140del
NM_001848.2:c.804+138_804+140del , LRG_475t1:c.804+138_804+140del NP_001839.2:n.804+138_804+140del
NM_001848.3:c.804+138_804+140del MANE Select NP_001839.2:n.804+138_804+140del
Search 100 bp 5'
Search 100 bp 3'