Canonical Allele Identifier: CA1315422628

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035171_189035173delinsGTC , CM000664.2:g.189035171_189035173delinsGTC	GRCh38
NC_000002.11:g.189899897_189899899delinsGTC , CM000664.1:g.189899897_189899899delinsGTC	GRCh37
NC_000002.10:g.189608142_189608144delinsGTC	NCBI36
NG_011799.1:g.149707_149709delinsGAC
NG_011799.2:g.149707_149709delinsGAC
NG_011799.3:g.195129_195131delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4114-18_4114-16delinsGAC MANE Select	ENSP00000364000.3:n.4114-18_4114-16delinsGAC
ENST00000374866.7:c.4114-18_4114-16delinsGAC	ENSP00000364000.3:n.4114-18_4114-16delinsGAC
ENST00000618828.1:c.2953-18_2953-16delinsGAC	ENSP00000482184.1:n.2953-18_2953-16delinsGAC
NM_000393.3:c.4114-18_4114-16delinsGAC	NP_000384.2:n.4114-18_4114-16delinsGAC
XM_011510573.1:c.3976-18_3976-16delinsGAC	XP_011508875.1:n.3976-18_3976-16delinsGAC
NM_000393.4:c.4114-18_4114-16delinsGAC	NP_000384.2:n.4114-18_4114-16delinsGAC
XM_011510573.3:c.3976-18_3976-16delinsGAC	XP_011508875.1:n.3976-18_3976-16delinsGAC
NM_000393.5:c.4114-18_4114-16delinsGAC MANE Select	NP_000384.2:n.4114-18_4114-16delinsGAC