Canonical Allele Identifier: CA1315428682

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059244_189059245delinsTA , CM000664.2:g.189059244_189059245delinsTA	GRCh38
NC_000002.11:g.189923970_189923971delinsTA , CM000664.1:g.189923970_189923971delinsTA	GRCh37
NC_000002.10:g.189632215_189632216delinsTA	NCBI36
NG_011799.1:g.125635_125636delinsTA
NG_011799.2:g.125635_125636delinsTA
NG_011799.3:g.171057_171058delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-352_2086-351delinsTA MANE Select	ENSP00000364000.3:n.2086-352_2086-351delinsTA
ENST00000374866.7:c.2086-352_2086-351delinsTA	ENSP00000364000.3:n.2086-352_2086-351delinsTA
ENST00000470524.2:n.192-352_192-351delinsTA
ENST00000618828.1:c.925-352_925-351delinsTA	ENSP00000482184.1:n.925-352_925-351delinsTA
NM_000393.3:c.2086-352_2086-351delinsTA	NP_000384.2:n.2086-352_2086-351delinsTA
XM_011510573.1:c.1948-352_1948-351delinsTA	XP_011508875.1:n.1948-352_1948-351delinsTA
NM_000393.4:c.2086-352_2086-351delinsTA	NP_000384.2:n.2086-352_2086-351delinsTA
XM_011510573.3:c.1948-352_1948-351delinsTA	XP_011508875.1:n.1948-352_1948-351delinsTA
NM_000393.5:c.2086-352_2086-351delinsTA MANE Select	NP_000384.2:n.2086-352_2086-351delinsTA