Canonical Allele Identifier: CA2504679058

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062946_189062950del , CM000664.2:g.189062946_189062950del	GRCh38
NC_000002.11:g.189927672_189927676del , CM000664.1:g.189927672_189927676del	GRCh37
NC_000002.10:g.189635917_189635921del	NCBI36
NG_011799.1:g.121935_121939del
NG_011799.2:g.121935_121939del
NG_011799.3:g.167357_167361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1924-27_1924-23del MANE Select	ENSP00000364000.3:n.1924-27_1924-23del
ENST00000374866.7:c.1924-27_1924-23del	ENSP00000364000.3:n.1924-27_1924-23del
ENST00000470524.2:n.30-27_30-23del
ENST00000618828.1:c.763-27_763-23del	ENSP00000482184.1:n.763-27_763-23del
NM_000393.3:c.1924-27_1924-23del	NP_000384.2:n.1924-27_1924-23del
XM_011510573.1:c.1786-27_1786-23del	XP_011508875.1:n.1786-27_1786-23del
NM_000393.4:c.1924-27_1924-23del	NP_000384.2:n.1924-27_1924-23del
XM_011510573.3:c.1786-27_1786-23del	XP_011508875.1:n.1786-27_1786-23del
NM_000393.5:c.1924-27_1924-23del MANE Select	NP_000384.2:n.1924-27_1924-23del