Canonical Allele Identifier: CA2188663
Gene: COL6A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237366708del , CM000664.2:g.237366708del GRCh38
NC_000002.11:g.238275351del , CM000664.1:g.238275351del GRCh37
NC_000002.10:g.237940090del NCBI36
NG_008676.1:g.52501del , LRG_473:g.52501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353578.9:c.4862del ENSP00000315873.4:p.Gly1621ValfsTer2
ENST00000295550.9:c.5480del MANE Select ENSP00000295550.4:p.Gly1827ValfsTer2
ENST00000295550.8:c.5480del ENSP00000295550.4:p.Gly1827ValfsTer2
ENST00000347401.7:c.3659del ENSP00000315609.4:p.Gly1220ValfsTer2
ENST00000353578.8:c.4862del ENSP00000315873.4:p.Gly1621ValfsTer2
ENST00000409809.5:c.4862del ENSP00000386844.1:p.Gly1621ValfsTer2
ENST00000472056.5:c.3659del ENSP00000418285.1:p.Gly1220ValfsTer2
NM_004369.3:c.5480del , LRG_473t1:c.5480del NP_004360.2:p.Gly1827ValfsTer2
NM_057166.4:c.3659del NP_476507.3:p.Gly1220ValfsTer2
NM_057167.3:c.4862del NP_476508.2:p.Gly1621ValfsTer2
XM_005246065.1:c.4880del XP_005246122.1:p.Gly1627ValfsTer2
XM_005246066.1:c.4259del XP_005246123.1:p.Gly1420ValfsTer2
XM_006712253.1:c.4979del XP_006712316.1:p.Gly1660ValfsTer2
XM_011510574.1:c.5477del XP_011508876.1:p.Gly1826ValfsTer2
XM_011510575.1:c.3074del XP_011508877.1:p.Gly1025ValfsTer2
XM_017003304.1:c.3074del XP_016858793.1:p.Gly1025ValfsTer2
XM_024452684.1:c.4259del XP_024308452.1:p.Gly1420ValfsTer2
NM_004369.4:c.5480del MANE Select NP_004360.2:p.Gly1827ValfsTer2
NM_057166.5:c.3659del NP_476507.3:p.Gly1220ValfsTer2
NM_057167.4:c.4862del NP_476508.2:p.Gly1621ValfsTer2
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