Canonical Allele Identifier: CA10605613
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286919
ClinVar RCV Id: RCV000278167
dbSNP Id: rs886043519
MyVariant Identifiers: chr2:g.238253119del (hg19) chr2:g.237344476del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237344476del , CM000664.2:g.237344476del GRCh38
NC_000002.11:g.238253119del , CM000664.1:g.238253119del GRCh37
NC_000002.10:g.237917858del NCBI36
NG_008676.1:g.74732del , LRG_473:g.74732del

Transcript Alleles

HGVS Amino-acid change
ENST00000347401.8:c.187del
ENST00000353578.9:c.6924del ENSP00000315873.4:p.Phe2309SerfsTer?
ENST00000295550.9:c.7542del MANE Select ENSP00000295550.4:p.Phe2515SerfsTer?
ENST00000295550.8:c.7542del ENSP00000295550.4:p.Phe2515SerfsTer?
ENST00000347401.7:c.5718del ENSP00000315609.4:p.Phe1907SerfsTer?
ENST00000353578.8:c.6924del ENSP00000315873.4:p.Phe2309SerfsTer?
ENST00000409809.5:c.6924del ENSP00000386844.1:p.Phe2309SerfsTer?
ENST00000472056.5:c.5721del ENSP00000418285.1:p.Phe1908SerfsTer?
ENST00000491769.1:n.1796del
NM_004369.3:c.7542del , LRG_473t1:c.7542del NP_004360.2:p.Phe2515SerfsTer?
NM_057166.4:c.5721del NP_476507.3:p.Phe1908SerfsTer?
NM_057167.3:c.6924del NP_476508.2:p.Phe2309SerfsTer?
XM_005246065.1:c.6942del XP_005246122.1:p.Phe2315SerfsTer?
XM_005246066.1:c.6321del XP_005246123.1:p.Phe2108SerfsTer?
XM_006712253.1:c.7041del XP_006712316.1:p.Phe2348SerfsTer?
XM_011510574.1:c.7539del XP_011508876.1:p.Phe2514SerfsTer?
XM_011510575.1:c.5136del XP_011508877.1:p.Phe1713SerfsTer?
XM_017003304.1:c.5136del XP_016858793.1:p.Phe1713SerfsTer?
XM_024452684.1:c.6321del XP_024308452.1:p.Phe2108SerfsTer?
NM_004369.4:c.7542del MANE Select NP_004360.2:p.Phe2515SerfsTer?
NM_057166.5:c.5721del NP_476507.3:p.Phe1908SerfsTer?
NM_057167.4:c.6924del NP_476508.2:p.Phe2309SerfsTer?
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