Canonical Allele Identifier: CA1315430321

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062836_189062838delinsTCA , CM000664.2:g.189062836_189062838delinsTCA	GRCh38
NC_000002.11:g.189927562_189927564delinsTCA , CM000664.1:g.189927562_189927564delinsTCA	GRCh37
NC_000002.10:g.189635807_189635809delinsTCA	NCBI36
NG_011799.1:g.122042_122044delinsTGA
NG_011799.2:g.122042_122044delinsTGA
NG_011799.3:g.167464_167466delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+27_1977+29delinsTGA MANE Select	ENSP00000364000.3:n.1977+27_1977+29delinsTGA
ENST00000374866.7:c.1977+27_1977+29delinsTGA	ENSP00000364000.3:n.1977+27_1977+29delinsTGA
ENST00000470524.2:n.83+27_83+29delinsTGA
ENST00000618828.1:c.816+27_816+29delinsTGA	ENSP00000482184.1:n.816+27_816+29delinsTGA
NM_000393.3:c.1977+27_1977+29delinsTGA	NP_000384.2:n.1977+27_1977+29delinsTGA
XM_011510573.1:c.1839+27_1839+29delinsTGA	XP_011508875.1:n.1839+27_1839+29delinsTGA
NM_000393.4:c.1977+27_1977+29delinsTGA	NP_000384.2:n.1977+27_1977+29delinsTGA
XM_011510573.3:c.1839+27_1839+29delinsTGA	XP_011508875.1:n.1839+27_1839+29delinsTGA
NM_000393.5:c.1977+27_1977+29delinsTGA MANE Select	NP_000384.2:n.1977+27_1977+29delinsTGA