Canonical Allele Identifier: CA10070028
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258283
ClinVar RCV Id: RCV000253219 RCV002058076
dbSNP Id: rs769487412
ExAC: 21:47410668 GT / G
gnomAD v2: 21-47410668-GT-G
gnomAD v3: 21-45990754-GT-G
gnomAD v4: 21-45990754-GT-G
MyVariant Identifiers: chr21:g.47410672del (hg19) chr21:g.47410669del (hg19) chr21:g.45990758del (hg38) chr21:g.45990755del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990758del , CM000683.2:g.45990758del GRCh38
NC_000021.8:g.47410672del , CM000683.1:g.47410672del GRCh37
NC_000021.7:g.46235100del NCBI36
NG_008674.1:g.14010del , LRG_475:g.14010del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1003-15del MANE Select ENSP00000355180.3:n.1003-15del
ENST00000361866.7:c.1003-15del ENSP00000355180.3:n.1003-15del
ENST00000612273.1:c.1003-15del ENSP00000483630.1:n.1003-15del
NM_001848.2:c.1003-15del , LRG_475t1:c.1003-15del NP_001839.2:n.1003-15del
NM_001848.3:c.1003-15del MANE Select NP_001839.2:n.1003-15del
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