Canonical Allele Identifier: CA538449073
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v2: 2-189872265-G-GGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT
MyVariant Identifiers: chr2:g.189872265_189872266insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT (hg19) chr2:g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT , CM000664.2:g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT GRCh38
NC_000002.11:g.189872265_189872266insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT , CM000664.1:g.189872265_189872266insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT GRCh37
NC_000002.10:g.189580510_189580511insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT NCBI36
NG_007404.1:g.38167_38168insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT , LRG_3:g.38167_38168insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT ENSP00000415346.2:p.Glu1066GlyfsTer23
ENST00000304636.9:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT MANE Select ENSP00000304408.4:p.Glu1099GlyfsTer23
ENST00000304636.7:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT ENSP00000304408.3:p.Glu1099GlyfsTer23
ENST00000317840.9:c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT ENSP00000315243.6:n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGA...
NM_000090.3:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT , LRG_3t1:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT NP_000081.1:p.Glu1099GlyfsTer23
NM_000090.4:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT MANE Select NP_000081.2:p.Glu1099GlyfsTer23
Search 100 bp 5'
Search 100 bp 3'