Canonical Allele Identifier: CA749823906
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1377658719
gnomAD v4: 21-45984169-GT-G
MyVariant Identifiers: chr21:g.47404084del (hg19) chr21:g.45984170del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984170del , CM000683.2:g.45984170del GRCh38
NC_000021.8:g.47404084del , CM000683.1:g.47404084del GRCh37
NC_000021.7:g.46228512del NCBI36
NG_008674.1:g.7422del , LRG_475:g.7422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-99del MANE Select ENSP00000355180.3:n.228-99del
ENST00000361866.7:c.228-99del ENSP00000355180.3:n.228-99del
ENST00000612273.1:c.228-99del ENSP00000483630.1:n.228-99del
NM_001848.2:c.228-99del , LRG_475t1:c.228-99del NP_001839.2:n.228-99del
NM_001848.3:c.228-99del MANE Select NP_001839.2:n.228-99del
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