Canonical Allele Identifier: CA1315430270

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062713_189062715delinsCAA , CM000664.2:g.189062713_189062715delinsCAA	GRCh38
NC_000002.11:g.189927439_189927441delinsCAA , CM000664.1:g.189927439_189927441delinsCAA	GRCh37
NC_000002.10:g.189635684_189635686delinsCAA	NCBI36
NG_011799.1:g.122165_122167delinsTTG
NG_011799.2:g.122165_122167delinsTTG
NG_011799.3:g.167587_167589delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+150_1977+152delinsTTG MANE Select	ENSP00000364000.3:n.1977+150_1977+152delinsTTG
ENST00000374866.7:c.1977+150_1977+152delinsTTG	ENSP00000364000.3:n.1977+150_1977+152delinsTTG
ENST00000470524.2:n.83+150_83+152delinsTTG
ENST00000618828.1:c.816+150_816+152delinsTTG	ENSP00000482184.1:n.816+150_816+152delinsTTG
NM_000393.3:c.1977+150_1977+152delinsTTG	NP_000384.2:n.1977+150_1977+152delinsTTG
XM_011510573.1:c.1839+150_1839+152delinsTTG	XP_011508875.1:n.1839+150_1839+152delinsTTG
NM_000393.4:c.1977+150_1977+152delinsTTG	NP_000384.2:n.1977+150_1977+152delinsTTG
XM_011510573.3:c.1839+150_1839+152delinsTTG	XP_011508875.1:n.1839+150_1839+152delinsTTG
NM_000393.5:c.1977+150_1977+152delinsTTG MANE Select	NP_000384.2:n.1977+150_1977+152delinsTTG