Canonical Allele Identifier: CA2565726046

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058825_189058826del , CM000664.2:g.189058825_189058826del	GRCh38
NC_000002.11:g.189923551_189923552del , CM000664.1:g.189923551_189923552del	GRCh37
NC_000002.10:g.189631796_189631797del	NCBI36
NG_011799.1:g.126054_126055del
NG_011799.2:g.126054_126055del
NG_011799.3:g.171476_171477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+23_2130+24del MANE Select	ENSP00000364000.3:n.2130+23_2130+24del
ENST00000374866.7:c.2130+23_2130+24del	ENSP00000364000.3:n.2130+23_2130+24del
ENST00000470524.2:n.236+23_236+24del
ENST00000618828.1:c.969+23_969+24del	ENSP00000482184.1:n.969+23_969+24del
NM_000393.3:c.2130+23_2130+24del	NP_000384.2:n.2130+23_2130+24del
XM_011510573.1:c.1992+23_1992+24del	XP_011508875.1:n.1992+23_1992+24del
NM_000393.4:c.2130+23_2130+24del	NP_000384.2:n.2130+23_2130+24del
XM_011510573.3:c.1992+23_1992+24del	XP_011508875.1:n.1992+23_1992+24del
NM_000393.5:c.2130+23_2130+24del MANE Select	NP_000384.2:n.2130+23_2130+24del