Canonical Allele Identifier: CA1315422622

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035165_189035167delinsCAA , CM000664.2:g.189035165_189035167delinsCAA	GRCh38
NC_000002.11:g.189899891_189899893delinsCAA , CM000664.1:g.189899891_189899893delinsCAA	GRCh37
NC_000002.10:g.189608136_189608138delinsCAA	NCBI36
NG_011799.1:g.149713_149715delinsTTG
NG_011799.2:g.149713_149715delinsTTG
NG_011799.3:g.195135_195137delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4114-12_4114-10delinsTTG MANE Select	ENSP00000364000.3:n.4114-12_4114-10delinsTTG
ENST00000374866.7:c.4114-12_4114-10delinsTTG	ENSP00000364000.3:n.4114-12_4114-10delinsTTG
ENST00000618828.1:c.2953-12_2953-10delinsTTG	ENSP00000482184.1:n.2953-12_2953-10delinsTTG
NM_000393.3:c.4114-12_4114-10delinsTTG	NP_000384.2:n.4114-12_4114-10delinsTTG
XM_011510573.1:c.3976-12_3976-10delinsTTG	XP_011508875.1:n.3976-12_3976-10delinsTTG
NM_000393.4:c.4114-12_4114-10delinsTTG	NP_000384.2:n.4114-12_4114-10delinsTTG
XM_011510573.3:c.3976-12_3976-10delinsTTG	XP_011508875.1:n.3976-12_3976-10delinsTTG
NM_000393.5:c.4114-12_4114-10delinsTTG MANE Select	NP_000384.2:n.4114-12_4114-10delinsTTG