Canonical Allele Identifier: CA2577187041

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098817_189098818del , CM000664.2:g.189098817_189098818del	GRCh38
NC_000002.11:g.189963543_189963544del , CM000664.1:g.189963543_189963544del	GRCh37
NC_000002.10:g.189671788_189671789del	NCBI36
NG_011799.1:g.86062_86063del
NG_011799.2:g.86062_86063del
NG_011799.3:g.131484_131485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-59_370-58del MANE Select	ENSP00000364000.3:n.370-59_370-58del
ENST00000649966.1:c.232-59_232-58del	ENSP00000496785.1:n.232-59_232-58del
ENST00000374866.7:c.370-59_370-58del	ENSP00000364000.3:n.370-59_370-58del
ENST00000618828.1:c.-261-59_-261-58del	ENSP00000482184.1:n.-261-59_-261-58del
NM_000393.3:c.370-59_370-58del	NP_000384.2:n.370-59_370-58del
XM_011510573.1:c.232-59_232-58del	XP_011508875.1:n.232-59_232-58del
NM_000393.4:c.370-59_370-58del	NP_000384.2:n.370-59_370-58del
XM_011510573.3:c.232-59_232-58del	XP_011508875.1:n.232-59_232-58del
NM_000393.5:c.370-59_370-58del MANE Select	NP_000384.2:n.370-59_370-58del