Canonical Allele Identifier: CA2573134240

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098742del , CM000664.2:g.189098742del	GRCh38
NC_000002.11:g.189963468del , CM000664.1:g.189963468del	GRCh37
NC_000002.10:g.189671713del	NCBI36
NG_011799.1:g.86138del
NG_011799.2:g.86138del
NG_011799.3:g.131560del

Transcript Alleles

HGVS	Amino-acid Change
NM_000393.5:c.387del MANE Select	NP_000384.2:p.Arg130ValfsTer?
ENST00000374866.9:c.387del MANE Select	ENSP00000364000.3:p.Arg130ValfsTer?
NM_000393.3:c.387del	NP_000384.2:p.Arg130ValfsTer?
NM_000393.4:c.387del	NP_000384.2:p.Arg130ValfsTer?
ENST00000374866.7:c.387del	ENSP00000364000.3:p.Arg130ValfsTer?
ENST00000618828.1:c.-244del	ENSP00000482184.1:n.-244del
ENST00000649966.1:c.249del	ENSP00000496785.1:p.Arg84ValfsTer?
XM_011510573.1:c.249del	XP_011508875.1:p.Arg84ValfsTer?
XM_011510573.3:c.249del	XP_011508875.1:p.Arg84ValfsTer?