Canonical Allele Identifier: CA1315430250

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062664_189062665delinsAG , CM000664.2:g.189062664_189062665delinsAG	GRCh38
NC_000002.11:g.189927390_189927391delinsAG , CM000664.1:g.189927390_189927391delinsAG	GRCh37
NC_000002.10:g.189635635_189635636delinsAG	NCBI36
NG_011799.1:g.122215_122216delinsCT
NG_011799.2:g.122215_122216delinsCT
NG_011799.3:g.167637_167638delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+200_1977+201delinsCT MANE Select	ENSP00000364000.3:n.1977+200_1977+201delinsCT
ENST00000374866.7:c.1977+200_1977+201delinsCT	ENSP00000364000.3:n.1977+200_1977+201delinsCT
ENST00000470524.2:n.83+200_83+201delinsCT
ENST00000618828.1:c.816+200_816+201delinsCT	ENSP00000482184.1:n.816+200_816+201delinsCT
NM_000393.3:c.1977+200_1977+201delinsCT	NP_000384.2:n.1977+200_1977+201delinsCT
XM_011510573.1:c.1839+200_1839+201delinsCT	XP_011508875.1:n.1839+200_1839+201delinsCT
NM_000393.4:c.1977+200_1977+201delinsCT	NP_000384.2:n.1977+200_1977+201delinsCT
XM_011510573.3:c.1839+200_1839+201delinsCT	XP_011508875.1:n.1839+200_1839+201delinsCT
NM_000393.5:c.1977+200_1977+201delinsCT MANE Select	NP_000384.2:n.1977+200_1977+201delinsCT