Canonical Allele Identifier: CA1315428666

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059191_189059205delinsAAATACATGCTAAAT , CM000664.2:g.189059191_189059205delinsAAATACATGCTAAAT	GRCh38
NC_000002.11:g.189923917_189923931delinsAAATACATGCTAAAT , CM000664.1:g.189923917_189923931delinsAAATACATGCTAAAT	GRCh37
NC_000002.10:g.189632162_189632176delinsAAATACATGCTAAAT	NCBI36
NG_011799.1:g.125675_125689delinsATTTAGCATGTATTT
NG_011799.2:g.125675_125689delinsATTTAGCATGTATTT
NG_011799.3:g.171097_171111delinsATTTAGCATGTATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-312_2086-298delinsATTTAGCATGTATTT MANE Select	ENSP00000364000.3:n.2086-312_2086-298delinsATTTAGCATGTATTT
ENST00000374866.7:c.2086-312_2086-298delinsATTTAGCATGTATTT	ENSP00000364000.3:n.2086-312_2086-298delinsATTTAGCATGTATTT
ENST00000470524.2:n.192-312_192-298delinsATTTAGCATGTATTT
ENST00000618828.1:c.925-312_925-298delinsATTTAGCATGTATTT	ENSP00000482184.1:n.925-312_925-298delinsATTTAGCATGTATTT
NM_000393.3:c.2086-312_2086-298delinsATTTAGCATGTATTT	NP_000384.2:n.2086-312_2086-298delinsATTTAGCATGTATTT
XM_011510573.1:c.1948-312_1948-298delinsATTTAGCATGTATTT	XP_011508875.1:n.1948-312_1948-298delinsATTTAGCATGTATTT
NM_000393.4:c.2086-312_2086-298delinsATTTAGCATGTATTT	NP_000384.2:n.2086-312_2086-298delinsATTTAGCATGTATTT
XM_011510573.3:c.1948-312_1948-298delinsATTTAGCATGTATTT	XP_011508875.1:n.1948-312_1948-298delinsATTTAGCATGTATTT
NM_000393.5:c.2086-312_2086-298delinsATTTAGCATGTATTT MANE Select	NP_000384.2:n.2086-312_2086-298delinsATTTAGCATGTATTT