Canonical Allele Identifier: CA052246
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 242587
ClinVar RCV Id: RCV000184025 RCV000987062
dbSNP Id: rs794729205
MyVariant Identifiers: chr2:g.238258810del (hg19) chr2:g.237350167del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237350168del , CM000664.2:g.237350168del GRCh38
NC_000002.11:g.238258811del , CM000664.1:g.238258811del GRCh37
NC_000002.10:g.237923550del NCBI36
NG_008676.1:g.69041del , LRG_473:g.69041del

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.6241del ENSP00000315873.4:p.Arg2081GlyfsTer?
ENST00000295550.9:c.6859del MANE Select ENSP00000295550.4:p.Arg2287GlyfsTer?
ENST00000295550.8:c.6859del ENSP00000295550.4:p.Arg2287GlyfsTer?
ENST00000347401.7:c.5038del ENSP00000315609.4:p.Arg1680GlyfsTer?
ENST00000353578.8:c.6241del ENSP00000315873.4:p.Arg2081GlyfsTer?
ENST00000409809.5:c.6241del ENSP00000386844.1:p.Arg2081GlyfsTer?
ENST00000472056.5:c.5038del ENSP00000418285.1:p.Arg1680GlyfsTer?
ENST00000491769.1:n.1113del
NM_004369.3:c.6859del , LRG_473t1:c.6859del NP_004360.2:p.Arg2287GlyfsTer?
NM_057166.4:c.5038del NP_476507.3:p.Arg1680GlyfsTer?
NM_057167.3:c.6241del NP_476508.2:p.Arg2081GlyfsTer?
XM_005246065.1:c.6259del XP_005246122.1:p.Arg2087GlyfsTer?
XM_005246066.1:c.5638del XP_005246123.1:p.Arg1880GlyfsTer?
XM_006712253.1:c.6358del XP_006712316.1:p.Arg2120GlyfsTer?
XM_011510574.1:c.6856del XP_011508876.1:p.Arg2286GlyfsTer?
XM_011510575.1:c.4453del XP_011508877.1:p.Arg1485GlyfsTer?
XM_017003304.1:c.4453del XP_016858793.1:p.Arg1485GlyfsTer?
XM_024452684.1:c.5638del XP_024308452.1:p.Arg1880GlyfsTer?
NM_004369.4:c.6859del MANE Select NP_004360.2:p.Arg2287GlyfsTer?
NM_057166.5:c.5038del NP_476507.3:p.Arg1680GlyfsTer?
NM_057167.4:c.6241del NP_476508.2:p.Arg2081GlyfsTer?
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