Canonical Allele Identifier: CA10605169
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285588
ClinVar RCV Id: RCV000276636
dbSNP Id: rs886043147
gnomAD v4: 21-45984352-CGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA-C
MyVariant Identifiers: chr21:g.47404270_47404304del (hg19) chr21:g.45984356_45984390del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984356_45984390del , CM000683.2:g.45984356_45984390del GRCh38
NC_000021.8:g.47404270_47404304del , CM000683.1:g.47404270_47404304del GRCh37
NC_000021.7:g.46228698_46228732del NCBI36
NG_008674.1:g.7608_7642del , LRG_475:g.7608_7642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.315_349del MANE Select ENSP00000355180.3:p.Met106GlyfsTer?
ENST00000361866.7:c.315_349del ENSP00000355180.3:p.Met106GlyfsTer?
ENST00000612273.1:c.315_349del ENSP00000483630.1:p.Met106GlyfsTer?
NM_001848.2:c.315_349del , LRG_475t1:c.315_349del NP_001839.2:p.Met106GlyfsTer?
NM_001848.3:c.315_349del MANE Select NP_001839.2:p.Met106GlyfsTer?
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