Canonical Allele Identifier: CA1315428467

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058688_189058689delinsTA , CM000664.2:g.189058688_189058689delinsTA	GRCh38
NC_000002.11:g.189923414_189923415delinsTA , CM000664.1:g.189923414_189923415delinsTA	GRCh37
NC_000002.10:g.189631659_189631660delinsTA	NCBI36
NG_011799.1:g.126191_126192delinsTA
NG_011799.2:g.126191_126192delinsTA
NG_011799.3:g.171613_171614delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+160_2131-161delinsTA MANE Select	ENSP00000364000.3:n.2130+160_2131-161delinsTA
ENST00000374866.7:c.2130+160_2131-161delinsTA	ENSP00000364000.3:n.2130+160_2131-161delinsTA
ENST00000470524.2:n.236+160_237-161delinsTA
ENST00000618828.1:c.969+160_970-161delinsTA	ENSP00000482184.1:n.969+160_970-161delinsTA
NM_000393.3:c.2130+160_2131-161delinsTA	NP_000384.2:n.2130+160_2131-161delinsTA
XM_011510573.1:c.1992+160_1993-161delinsTA	XP_011508875.1:n.1992+160_1993-161delinsTA
NM_000393.4:c.2130+160_2131-161delinsTA	NP_000384.2:n.2130+160_2131-161delinsTA
XM_011510573.3:c.1992+160_1993-161delinsTA	XP_011508875.1:n.1992+160_1993-161delinsTA
NM_000393.5:c.2130+160_2131-161delinsTA MANE Select	NP_000384.2:n.2130+160_2131-161delinsTA