Canonical Allele Identifier: CA2753572350
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188997455_188997458dup , CM000664.2:g.188997455_188997458dup GRCh38
NC_000002.11:g.189862181_189862184dup , CM000664.1:g.189862181_189862184dup GRCh37
NC_000002.10:g.189570426_189570429dup NCBI36
NG_007404.1:g.28083_28086dup , LRG_3:g.28083_28086dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1770+66_1770+69dup ENSP00000415346.2:n.1770+66_1770+69dup
ENST00000304636.9:c.1869+66_1869+69dup MANE Select ENSP00000304408.4:n.1869+66_1869+69dup
ENST00000304636.7:c.1869+66_1869+69dup ENSP00000304408.3:n.1869+66_1869+69dup
ENST00000317840.9:c.1869+66_1869+69dup ENSP00000315243.6:n.1869+66_1869+69dup
NM_000090.3:c.1869+66_1869+69dup , LRG_3t1:c.1869+66_1869+69dup NP_000081.1:n.1869+66_1869+69dup
NM_000090.4:c.1869+66_1869+69dup MANE Select NP_000081.2:n.1869+66_1869+69dup