Canonical Allele Identifier: CA2753586306

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058727_189058728del , CM000664.2:g.189058727_189058728del	GRCh38
NC_000002.11:g.189923453_189923454del , CM000664.1:g.189923453_189923454del	GRCh37
NC_000002.10:g.189631698_189631699del	NCBI36
NG_011799.1:g.126152_126153del
NG_011799.2:g.126152_126153del
NG_011799.3:g.171574_171575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+121_2130+122del MANE Select	ENSP00000364000.3:n.2130+121_2130+122del
ENST00000374866.7:c.2130+121_2130+122del	ENSP00000364000.3:n.2130+121_2130+122del
ENST00000470524.2:n.236+121_236+122del
ENST00000618828.1:c.969+121_969+122del	ENSP00000482184.1:n.969+121_969+122del
NM_000393.3:c.2130+121_2130+122del	NP_000384.2:n.2130+121_2130+122del
XM_011510573.1:c.1992+121_1992+122del	XP_011508875.1:n.1992+121_1992+122del
NM_000393.4:c.2130+121_2130+122del	NP_000384.2:n.2130+121_2130+122del
XM_011510573.3:c.1992+121_1992+122del	XP_011508875.1:n.1992+121_1992+122del
NM_000393.5:c.2130+121_2130+122del MANE Select	NP_000384.2:n.2130+121_2130+122del