Canonical Allele Identifier: CA2525573675

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062697_189062698del , CM000664.2:g.189062697_189062698del	GRCh38
NC_000002.11:g.189927423_189927424del , CM000664.1:g.189927423_189927424del	GRCh37
NC_000002.10:g.189635668_189635669del	NCBI36
NG_011799.1:g.122182_122183del
NG_011799.2:g.122182_122183del
NG_011799.3:g.167604_167605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+167_1977+168del MANE Select	ENSP00000364000.3:n.1977+167_1977+168del
ENST00000374866.7:c.1977+167_1977+168del	ENSP00000364000.3:n.1977+167_1977+168del
ENST00000470524.2:n.83+167_83+168del
ENST00000618828.1:c.816+167_816+168del	ENSP00000482184.1:n.816+167_816+168del
NM_000393.3:c.1977+167_1977+168del	NP_000384.2:n.1977+167_1977+168del
XM_011510573.1:c.1839+167_1839+168del	XP_011508875.1:n.1839+167_1839+168del
NM_000393.4:c.1977+167_1977+168del	NP_000384.2:n.1977+167_1977+168del
XM_011510573.3:c.1839+167_1839+168del	XP_011508875.1:n.1839+167_1839+168del
NM_000393.5:c.1977+167_1977+168del MANE Select	NP_000384.2:n.1977+167_1977+168del