Canonical Allele Identifier: CA1315419001

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046045_189046051delinsATTTTAC , CM000664.2:g.189046045_189046051delinsATTTTAC	GRCh38
NC_000002.11:g.189910771_189910777delinsATTTTAC , CM000664.1:g.189910771_189910777delinsATTTTAC	GRCh37
NC_000002.10:g.189619016_189619022delinsATTTTAC	NCBI36
NG_011799.1:g.138829_138835delinsGTAAAAT
NG_011799.2:g.138829_138835delinsGTAAAAT
NG_011799.3:g.184251_184257delinsGTAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-144_3202-138delinsGTAAAAT MANE Select	ENSP00000364000.3:n.3202-144_3202-138delinsGTAAAAT
ENST00000374866.7:c.3202-144_3202-138delinsGTAAAAT	ENSP00000364000.3:n.3202-144_3202-138delinsGTAAAAT
ENST00000618828.1:c.2041-144_2041-138delinsGTAAAAT	ENSP00000482184.1:n.2041-144_2041-138delinsGTAAAAT
NM_000393.3:c.3202-144_3202-138delinsGTAAAAT	NP_000384.2:n.3202-144_3202-138delinsGTAAAAT
XM_011510573.1:c.3064-144_3064-138delinsGTAAAAT	XP_011508875.1:n.3064-144_3064-138delinsGTAAAAT
NM_000393.4:c.3202-144_3202-138delinsGTAAAAT	NP_000384.2:n.3202-144_3202-138delinsGTAAAAT
XM_011510573.3:c.3064-144_3064-138delinsGTAAAAT	XP_011508875.1:n.3064-144_3064-138delinsGTAAAAT
NM_000393.5:c.3202-144_3202-138delinsGTAAAAT MANE Select	NP_000384.2:n.3202-144_3202-138delinsGTAAAAT