Canonical Allele Identifier: CA1315419030

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046069_189046074delinsTAAATC , CM000664.2:g.189046069_189046074delinsTAAATC	GRCh38
NC_000002.11:g.189910795_189910800delinsTAAATC , CM000664.1:g.189910795_189910800delinsTAAATC	GRCh37
NC_000002.10:g.189619040_189619045delinsTAAATC	NCBI36
NG_011799.1:g.138806_138811delinsGATTTA
NG_011799.2:g.138806_138811delinsGATTTA
NG_011799.3:g.184228_184233delinsGATTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-167_3202-162delinsGATTTA MANE Select	ENSP00000364000.3:n.3202-167_3202-162delinsGATTTA
ENST00000374866.7:c.3202-167_3202-162delinsGATTTA	ENSP00000364000.3:n.3202-167_3202-162delinsGATTTA
ENST00000618828.1:c.2041-167_2041-162delinsGATTTA	ENSP00000482184.1:n.2041-167_2041-162delinsGATTTA
NM_000393.3:c.3202-167_3202-162delinsGATTTA	NP_000384.2:n.3202-167_3202-162delinsGATTTA
XM_011510573.1:c.3064-167_3064-162delinsGATTTA	XP_011508875.1:n.3064-167_3064-162delinsGATTTA
NM_000393.4:c.3202-167_3202-162delinsGATTTA	NP_000384.2:n.3202-167_3202-162delinsGATTTA
XM_011510573.3:c.3064-167_3064-162delinsGATTTA	XP_011508875.1:n.3064-167_3064-162delinsGATTTA
NM_000393.5:c.3202-167_3202-162delinsGATTTA MANE Select	NP_000384.2:n.3202-167_3202-162delinsGATTTA