Canonical Allele Identifier: CA1315401780
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189001272_189001273delinsTA , CM000664.2:g.189001272_189001273delinsTA GRCh38
NC_000002.11:g.189865998_189865999delinsTA , CM000664.1:g.189865998_189865999delinsTA GRCh37
NC_000002.10:g.189574243_189574244delinsTA NCBI36
NG_007404.1:g.31900_31901delinsTA , LRG_3:g.31900_31901delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2185-125_2185-124delinsTA ENSP00000415346.2:n.2185-125_2185-124delinsTA
ENST00000304636.9:c.2284-125_2284-124delinsTA MANE Select ENSP00000304408.4:n.2284-125_2284-124delinsTA
ENST00000304636.7:c.2284-125_2284-124delinsTA ENSP00000304408.3:n.2284-125_2284-124delinsTA
ENST00000317840.9:c.2284-125_2284-124delinsTA ENSP00000315243.6:n.2284-125_2284-124delinsTA
NM_000090.3:c.2284-125_2284-124delinsTA , LRG_3t1:c.2284-125_2284-124delinsTA NP_000081.1:n.2284-125_2284-124delinsTA
NM_000090.4:c.2284-125_2284-124delinsTA MANE Select NP_000081.2:n.2284-125_2284-124delinsTA