Canonical Allele Identifier: CA1315418999

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046036_189046037delinsAT , CM000664.2:g.189046036_189046037delinsAT	GRCh38
NC_000002.11:g.189910762_189910763delinsAT , CM000664.1:g.189910762_189910763delinsAT	GRCh37
NC_000002.10:g.189619007_189619008delinsAT	NCBI36
NG_011799.1:g.138843_138844delinsAT
NG_011799.2:g.138843_138844delinsAT
NG_011799.3:g.184265_184266delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-130_3202-129delinsAT MANE Select	ENSP00000364000.3:n.3202-130_3202-129delinsAT
ENST00000374866.7:c.3202-130_3202-129delinsAT	ENSP00000364000.3:n.3202-130_3202-129delinsAT
ENST00000618828.1:c.2041-130_2041-129delinsAT	ENSP00000482184.1:n.2041-130_2041-129delinsAT
NM_000393.3:c.3202-130_3202-129delinsAT	NP_000384.2:n.3202-130_3202-129delinsAT
XM_011510573.1:c.3064-130_3064-129delinsAT	XP_011508875.1:n.3064-130_3064-129delinsAT
NM_000393.4:c.3202-130_3202-129delinsAT	NP_000384.2:n.3202-130_3202-129delinsAT
XM_011510573.3:c.3064-130_3064-129delinsAT	XP_011508875.1:n.3064-130_3064-129delinsAT
NM_000393.5:c.3202-130_3202-129delinsAT MANE Select	NP_000384.2:n.3202-130_3202-129delinsAT