Canonical Allele Identifier: CA1315428673

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059208_189059209delinsCT , CM000664.2:g.189059208_189059209delinsCT	GRCh38
NC_000002.11:g.189923934_189923935delinsCT , CM000664.1:g.189923934_189923935delinsCT	GRCh37
NC_000002.10:g.189632179_189632180delinsCT	NCBI36
NG_011799.1:g.125671_125672delinsAG
NG_011799.2:g.125671_125672delinsAG
NG_011799.3:g.171093_171094delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-316_2086-315delinsAG MANE Select	ENSP00000364000.3:n.2086-316_2086-315delinsAG
ENST00000374866.7:c.2086-316_2086-315delinsAG	ENSP00000364000.3:n.2086-316_2086-315delinsAG
ENST00000470524.2:n.192-316_192-315delinsAG
ENST00000618828.1:c.925-316_925-315delinsAG	ENSP00000482184.1:n.925-316_925-315delinsAG
NM_000393.3:c.2086-316_2086-315delinsAG	NP_000384.2:n.2086-316_2086-315delinsAG
XM_011510573.1:c.1948-316_1948-315delinsAG	XP_011508875.1:n.1948-316_1948-315delinsAG
NM_000393.4:c.2086-316_2086-315delinsAG	NP_000384.2:n.2086-316_2086-315delinsAG
XM_011510573.3:c.1948-316_1948-315delinsAG	XP_011508875.1:n.1948-316_1948-315delinsAG
NM_000393.5:c.2086-316_2086-315delinsAG MANE Select	NP_000384.2:n.2086-316_2086-315delinsAG