Canonical Allele Identifier: CA1315428454

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058674_189058676delinsATT , CM000664.2:g.189058674_189058676delinsATT	GRCh38
NC_000002.11:g.189923400_189923402delinsATT , CM000664.1:g.189923400_189923402delinsATT	GRCh37
NC_000002.10:g.189631645_189631647delinsATT	NCBI36
NG_011799.1:g.126204_126206delinsAAT
NG_011799.2:g.126204_126206delinsAAT
NG_011799.3:g.171626_171628delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-149_2131-147delinsAAT MANE Select	ENSP00000364000.3:n.2131-149_2131-147delinsAAT
ENST00000374866.7:c.2131-149_2131-147delinsAAT	ENSP00000364000.3:n.2131-149_2131-147delinsAAT
ENST00000470524.2:n.237-149_237-147delinsAAT
ENST00000618828.1:c.970-149_970-147delinsAAT	ENSP00000482184.1:n.970-149_970-147delinsAAT
NM_000393.3:c.2131-149_2131-147delinsAAT	NP_000384.2:n.2131-149_2131-147delinsAAT
XM_011510573.1:c.1993-149_1993-147delinsAAT	XP_011508875.1:n.1993-149_1993-147delinsAAT
NM_000393.4:c.2131-149_2131-147delinsAAT	NP_000384.2:n.2131-149_2131-147delinsAAT
XM_011510573.3:c.1993-149_1993-147delinsAAT	XP_011508875.1:n.1993-149_1993-147delinsAAT
NM_000393.5:c.2131-149_2131-147delinsAAT MANE Select	NP_000384.2:n.2131-149_2131-147delinsAAT