Canonical Allele Identifier: CA1315418967

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046001_189046002delinsGA , CM000664.2:g.189046001_189046002delinsGA	GRCh38
NC_000002.11:g.189910727_189910728delinsGA , CM000664.1:g.189910727_189910728delinsGA	GRCh37
NC_000002.10:g.189618972_189618973delinsGA	NCBI36
NG_011799.1:g.138878_138879delinsTC
NG_011799.2:g.138878_138879delinsTC
NG_011799.3:g.184300_184301delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-95_3202-94delinsTC MANE Select	ENSP00000364000.3:n.3202-95_3202-94delinsTC
ENST00000374866.7:c.3202-95_3202-94delinsTC	ENSP00000364000.3:n.3202-95_3202-94delinsTC
ENST00000618828.1:c.2041-95_2041-94delinsTC	ENSP00000482184.1:n.2041-95_2041-94delinsTC
NM_000393.3:c.3202-95_3202-94delinsTC	NP_000384.2:n.3202-95_3202-94delinsTC
XM_011510573.1:c.3064-95_3064-94delinsTC	XP_011508875.1:n.3064-95_3064-94delinsTC
NM_000393.4:c.3202-95_3202-94delinsTC	NP_000384.2:n.3202-95_3202-94delinsTC
XM_011510573.3:c.3064-95_3064-94delinsTC	XP_011508875.1:n.3064-95_3064-94delinsTC
NM_000393.5:c.3202-95_3202-94delinsTC MANE Select	NP_000384.2:n.3202-95_3202-94delinsTC