Canonical Allele Identifier: CA1315428429

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058603_189058605delinsTTC , CM000664.2:g.189058603_189058605delinsTTC	GRCh38
NC_000002.11:g.189923329_189923331delinsTTC , CM000664.1:g.189923329_189923331delinsTTC	GRCh37
NC_000002.10:g.189631574_189631576delinsTTC	NCBI36
NG_011799.1:g.126275_126277delinsGAA
NG_011799.2:g.126275_126277delinsGAA
NG_011799.3:g.171697_171699delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-78_2131-76delinsGAA MANE Select	ENSP00000364000.3:n.2131-78_2131-76delinsGAA
ENST00000374866.7:c.2131-78_2131-76delinsGAA	ENSP00000364000.3:n.2131-78_2131-76delinsGAA
ENST00000470524.2:n.237-78_237-76delinsGAA
ENST00000618828.1:c.970-78_970-76delinsGAA	ENSP00000482184.1:n.970-78_970-76delinsGAA
NM_000393.3:c.2131-78_2131-76delinsGAA	NP_000384.2:n.2131-78_2131-76delinsGAA
XM_011510573.1:c.1993-78_1993-76delinsGAA	XP_011508875.1:n.1993-78_1993-76delinsGAA
NM_000393.4:c.2131-78_2131-76delinsGAA	NP_000384.2:n.2131-78_2131-76delinsGAA
XM_011510573.3:c.1993-78_1993-76delinsGAA	XP_011508875.1:n.1993-78_1993-76delinsGAA
NM_000393.5:c.2131-78_2131-76delinsGAA MANE Select	NP_000384.2:n.2131-78_2131-76delinsGAA