Canonical Allele Identifier: CA1315428699

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059298_189059299delinsTC , CM000664.2:g.189059298_189059299delinsTC	GRCh38
NC_000002.11:g.189924024_189924025delinsTC , CM000664.1:g.189924024_189924025delinsTC	GRCh37
NC_000002.10:g.189632269_189632270delinsTC	NCBI36
NG_011799.1:g.125581_125582delinsGA
NG_011799.2:g.125581_125582delinsGA
NG_011799.3:g.171003_171004delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-406_2086-405delinsGA MANE Select	ENSP00000364000.3:n.2086-406_2086-405delinsGA
ENST00000374866.7:c.2086-406_2086-405delinsGA	ENSP00000364000.3:n.2086-406_2086-405delinsGA
ENST00000470524.2:n.192-406_192-405delinsGA
ENST00000618828.1:c.925-406_925-405delinsGA	ENSP00000482184.1:n.925-406_925-405delinsGA
NM_000393.3:c.2086-406_2086-405delinsGA	NP_000384.2:n.2086-406_2086-405delinsGA
XM_011510573.1:c.1948-406_1948-405delinsGA	XP_011508875.1:n.1948-406_1948-405delinsGA
NM_000393.4:c.2086-406_2086-405delinsGA	NP_000384.2:n.2086-406_2086-405delinsGA
XM_011510573.3:c.1948-406_1948-405delinsGA	XP_011508875.1:n.1948-406_1948-405delinsGA
NM_000393.5:c.2086-406_2086-405delinsGA MANE Select	NP_000384.2:n.2086-406_2086-405delinsGA