Canonical Allele Identifier: CA1315419112

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046186_189046187delinsCA , CM000664.2:g.189046186_189046187delinsCA	GRCh38
NC_000002.11:g.189910912_189910913delinsCA , CM000664.1:g.189910912_189910913delinsCA	GRCh37
NC_000002.10:g.189619157_189619158delinsCA	NCBI36
NG_011799.1:g.138693_138694delinsTG
NG_011799.2:g.138693_138694delinsTG
NG_011799.3:g.184115_184116delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-280_3202-279delinsTG MANE Select	ENSP00000364000.3:n.3202-280_3202-279delinsTG
ENST00000374866.7:c.3202-280_3202-279delinsTG	ENSP00000364000.3:n.3202-280_3202-279delinsTG
ENST00000618828.1:c.2041-280_2041-279delinsTG	ENSP00000482184.1:n.2041-280_2041-279delinsTG
NM_000393.3:c.3202-280_3202-279delinsTG	NP_000384.2:n.3202-280_3202-279delinsTG
XM_011510573.1:c.3064-280_3064-279delinsTG	XP_011508875.1:n.3064-280_3064-279delinsTG
NM_000393.4:c.3202-280_3202-279delinsTG	NP_000384.2:n.3202-280_3202-279delinsTG
XM_011510573.3:c.3064-280_3064-279delinsTG	XP_011508875.1:n.3064-280_3064-279delinsTG
NM_000393.5:c.3202-280_3202-279delinsTG MANE Select	NP_000384.2:n.3202-280_3202-279delinsTG