Canonical Allele Identifier: CA2753572056
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991891_188991892insGATAA , CM000664.2:g.188991891_188991892insGATAA GRCh38
NC_000002.11:g.189856617_189856618insGATAA , CM000664.1:g.189856617_189856618insGATAA GRCh37
NC_000002.10:g.189564862_189564863insGATAA NCBI36
NG_007404.1:g.22519_22520insGATAA , LRG_3:g.22519_22520insGATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.951+169_951+170insGATAA ENSP00000415346.2:n.951+169_951+170insGATAA
ENST00000304636.9:c.951+169_951+170insGATAA MANE Select ENSP00000304408.4:n.951+169_951+170insGATAA
ENST00000304636.7:c.951+169_951+170insGATAA ENSP00000304408.3:n.951+169_951+170insGATAA
ENST00000317840.9:c.951+169_951+170insGATAA ENSP00000315243.6:n.951+169_951+170insGATAA
ENST00000450867.1:c.49+169_49+170insGATAA
NM_000090.3:c.951+169_951+170insGATAA , LRG_3t1:c.951+169_951+170insGATAA NP_000081.1:n.951+169_951+170insGATAA
NM_000090.4:c.951+169_951+170insGATAA MANE Select NP_000081.2:n.951+169_951+170insGATAA