Canonical Allele Identifier: CA10604490
Gene: COL6A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237341120_237341121del , CM000664.2:g.237341120_237341121del GRCh38
NC_000002.11:g.238249763_238249764del , CM000664.1:g.238249763_238249764del GRCh37
NC_000002.10:g.237914502_237914503del NCBI36
NG_008676.1:g.78088_78089del , LRG_473:g.78088_78089del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.441_442del
ENST00000353578.9:c.7178_7179del ENSP00000315873.4:p.Phe2393TrpfsTer29
ENST00000684508.1:n.63_64del
ENST00000295550.9:c.7796_7797del MANE Select ENSP00000295550.4:p.Phe2599TrpfsTer29
ENST00000295550.8:c.7796_7797del ENSP00000295550.4:p.Phe2599TrpfsTer29
ENST00000347401.7:c.5972_5973del ENSP00000315609.4:p.Phe1991TrpfsTer29
ENST00000353578.8:c.7178_7179del ENSP00000315873.4:p.Phe2393TrpfsTer29
ENST00000409809.5:c.7178_7179del ENSP00000386844.1:p.Phe2393TrpfsTer29
ENST00000472056.5:c.5975_5976del ENSP00000418285.1:p.Phe1992TrpfsTer29
ENST00000491769.1:n.4238_4239del
NM_004369.3:c.7796_7797del , LRG_473t1:c.7796_7797del NP_004360.2:p.Phe2599TrpfsTer29
NM_057166.4:c.5975_5976del NP_476507.3:p.Phe1992TrpfsTer29
NM_057167.3:c.7178_7179del NP_476508.2:p.Phe2393TrpfsTer29
XM_005246065.1:c.7196_7197del XP_005246122.1:p.Phe2399TrpfsTer29
XM_005246066.1:c.6575_6576del XP_005246123.1:p.Phe2192TrpfsTer29
XM_006712253.1:c.7295_7296del XP_006712316.1:p.Phe2432TrpfsTer29
XM_011510574.1:c.7793_7794del XP_011508876.1:p.Phe2598TrpfsTer29
XM_011510575.1:c.5390_5391del XP_011508877.1:p.Phe1797TrpfsTer29
XM_017003304.1:c.5390_5391del XP_016858793.1:p.Phe1797TrpfsTer29
XM_024452684.1:c.6575_6576del XP_024308452.1:p.Phe2192TrpfsTer29
NM_004369.4:c.7796_7797del MANE Select NP_004360.2:p.Phe2599TrpfsTer29
NM_057166.5:c.5975_5976del NP_476507.3:p.Phe1992TrpfsTer29
NM_057167.4:c.7178_7179del NP_476508.2:p.Phe2393TrpfsTer29
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