Canonical Allele Identifier: CA1315428457

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058676_189058687delinsTTGAAGTAAGGA , CM000664.2:g.189058676_189058687delinsTTGAAGTAAGGA	GRCh38
NC_000002.11:g.189923402_189923413delinsTTGAAGTAAGGA , CM000664.1:g.189923402_189923413delinsTTGAAGTAAGGA	GRCh37
NC_000002.10:g.189631647_189631658delinsTTGAAGTAAGGA	NCBI36
NG_011799.1:g.126193_126204delinsTCCTTACTTCAA
NG_011799.2:g.126193_126204delinsTCCTTACTTCAA
NG_011799.3:g.171615_171626delinsTCCTTACTTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-160_2131-149delinsTCCTTACTTCAA MANE Select	ENSP00000364000.3:n.2131-160_2131-149delinsTCCTTACTTCAA
ENST00000374866.7:c.2131-160_2131-149delinsTCCTTACTTCAA	ENSP00000364000.3:n.2131-160_2131-149delinsTCCTTACTTCAA
ENST00000470524.2:n.237-160_237-149delinsTCCTTACTTCAA
ENST00000618828.1:c.970-160_970-149delinsTCCTTACTTCAA	ENSP00000482184.1:n.970-160_970-149delinsTCCTTACTTCAA
NM_000393.3:c.2131-160_2131-149delinsTCCTTACTTCAA	NP_000384.2:n.2131-160_2131-149delinsTCCTTACTTCAA
XM_011510573.1:c.1993-160_1993-149delinsTCCTTACTTCAA	XP_011508875.1:n.1993-160_1993-149delinsTCCTTACTTCAA
NM_000393.4:c.2131-160_2131-149delinsTCCTTACTTCAA	NP_000384.2:n.2131-160_2131-149delinsTCCTTACTTCAA
XM_011510573.3:c.1993-160_1993-149delinsTCCTTACTTCAA	XP_011508875.1:n.1993-160_1993-149delinsTCCTTACTTCAA
NM_000393.5:c.2131-160_2131-149delinsTCCTTACTTCAA MANE Select	NP_000384.2:n.2131-160_2131-149delinsTCCTTACTTCAA