Canonical Allele Identifier: CA2753572360
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188997574_188997575insTAAACT , CM000664.2:g.188997574_188997575insTAAACT GRCh38
NC_000002.11:g.189862300_189862301insTAAACT , CM000664.1:g.189862300_189862301insTAAACT GRCh37
NC_000002.10:g.189570545_189570546insTAAACT NCBI36
NG_007404.1:g.28202_28203insTAAACT , LRG_3:g.28202_28203insTAAACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1771-126_1771-125insTAAACT ENSP00000415346.2:n.1771-126_1771-125insTAAACT
ENST00000304636.9:c.1870-126_1870-125insTAAACT MANE Select ENSP00000304408.4:n.1870-126_1870-125insTAAACT
ENST00000304636.7:c.1870-126_1870-125insTAAACT ENSP00000304408.3:n.1870-126_1870-125insTAAACT
ENST00000317840.9:c.1870-126_1870-125insTAAACT ENSP00000315243.6:n.1870-126_1870-125insTAAACT
NM_000090.3:c.1870-126_1870-125insTAAACT , LRG_3t1:c.1870-126_1870-125insTAAACT NP_000081.1:n.1870-126_1870-125insTAAACT
NM_000090.4:c.1870-126_1870-125insTAAACT MANE Select NP_000081.2:n.1870-126_1870-125insTAAACT