Canonical Allele Identifier: CA2695216308
Community Standard Title: NC_000012.12:g.47993809del
Gene: COL2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993809del , CM000674.2:g.47993809del GRCh38
NC_000012.11:g.48387592del , CM000674.1:g.48387592del GRCh37
NC_000012.10:g.46673859del NCBI36
NG_008072.1:g.15695del

Transcript Alleles

HGVS Amino-acid Change
NM_001844.4:c.924+1del
NM_001844.5:c.924+1del
NM_033150.2:c.717+1del
NM_033150.3:c.717+1del
ENST00000337299.6:c.717+1del
ENST00000337299.7:c.717+1del
ENST00000380518.7:c.924+1del
ENST00000380518.8:c.924+1del
XM_006719242.2:c.1068+1del
XM_011537928.1:c.1068+1del
XM_011537929.1:c.1068+1del
XM_011537930.1:c.1068+1del
XM_011537931.1:c.1068+1del
XM_011537932.1:c.1068+1del
XM_011537933.1:c.1068+1del
XM_011537934.1:c.1065+1del
XM_017018828.1:c.1068+1del
XM_017018829.1:c.1065+1del
XM_017018830.1:c.858+1del
XM_017018831.2:c.378+1del
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