Canonical Allele Identifier: CA1315428692

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059275_189059276delinsGT , CM000664.2:g.189059275_189059276delinsGT	GRCh38
NC_000002.11:g.189924001_189924002delinsGT , CM000664.1:g.189924001_189924002delinsGT	GRCh37
NC_000002.10:g.189632246_189632247delinsGT	NCBI36
NG_011799.1:g.125604_125605delinsAC
NG_011799.2:g.125604_125605delinsAC
NG_011799.3:g.171026_171027delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-383_2086-382delinsAC MANE Select	ENSP00000364000.3:n.2086-383_2086-382delinsAC
ENST00000374866.7:c.2086-383_2086-382delinsAC	ENSP00000364000.3:n.2086-383_2086-382delinsAC
ENST00000470524.2:n.192-383_192-382delinsAC
ENST00000618828.1:c.925-383_925-382delinsAC	ENSP00000482184.1:n.925-383_925-382delinsAC
NM_000393.3:c.2086-383_2086-382delinsAC	NP_000384.2:n.2086-383_2086-382delinsAC
XM_011510573.1:c.1948-383_1948-382delinsAC	XP_011508875.1:n.1948-383_1948-382delinsAC
NM_000393.4:c.2086-383_2086-382delinsAC	NP_000384.2:n.2086-383_2086-382delinsAC
XM_011510573.3:c.1948-383_1948-382delinsAC	XP_011508875.1:n.1948-383_1948-382delinsAC
NM_000393.5:c.2086-383_2086-382delinsAC MANE Select	NP_000384.2:n.2086-383_2086-382delinsAC