Canonical Allele Identifier: CA2577186480

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058924_189058925insTCA , CM000664.2:g.189058924_189058925insTCA	GRCh38
NC_000002.11:g.189923650_189923651insTCA , CM000664.1:g.189923650_189923651insTCA	GRCh37
NC_000002.10:g.189631895_189631896insTCA	NCBI36
NG_011799.1:g.125955_125956insTGA
NG_011799.2:g.125955_125956insTGA
NG_011799.3:g.171377_171378insTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-32_2086-31insTGA MANE Select	ENSP00000364000.3:n.2086-32_2086-31insTGA
ENST00000374866.7:c.2086-32_2086-31insTGA	ENSP00000364000.3:n.2086-32_2086-31insTGA
ENST00000470524.2:n.192-32_192-31insTGA
ENST00000618828.1:c.925-32_925-31insTGA	ENSP00000482184.1:n.925-32_925-31insTGA
NM_000393.3:c.2086-32_2086-31insTGA	NP_000384.2:n.2086-32_2086-31insTGA
XM_011510573.1:c.1948-32_1948-31insTGA	XP_011508875.1:n.1948-32_1948-31insTGA
NM_000393.4:c.2086-32_2086-31insTGA	NP_000384.2:n.2086-32_2086-31insTGA
XM_011510573.3:c.1948-32_1948-31insTGA	XP_011508875.1:n.1948-32_1948-31insTGA
NM_000393.5:c.2086-32_2086-31insTGA MANE Select	NP_000384.2:n.2086-32_2086-31insTGA