Canonical Allele Identifier: CA1315424846

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050239_189050240delinsAG , CM000664.2:g.189050239_189050240delinsAG	GRCh38
NC_000002.11:g.189914965_189914966delinsAG , CM000664.1:g.189914965_189914966delinsAG	GRCh37
NC_000002.10:g.189623210_189623211delinsAG	NCBI36
NG_011799.1:g.134640_134641delinsCT
NG_011799.2:g.134640_134641delinsCT
NG_011799.3:g.180062_180063delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+329_3039+330delinsCT MANE Select	ENSP00000364000.3:n.3039+329_3039+330delinsCT
ENST00000374866.7:c.3039+329_3039+330delinsCT	ENSP00000364000.3:n.3039+329_3039+330delinsCT
ENST00000618828.1:c.1878+329_1878+330delinsCT	ENSP00000482184.1:n.1878+329_1878+330delinsCT
NM_000393.3:c.3039+329_3039+330delinsCT	NP_000384.2:n.3039+329_3039+330delinsCT
XM_011510573.1:c.2901+329_2901+330delinsCT	XP_011508875.1:n.2901+329_2901+330delinsCT
NM_000393.4:c.3039+329_3039+330delinsCT	NP_000384.2:n.3039+329_3039+330delinsCT
XM_011510573.3:c.2901+329_2901+330delinsCT	XP_011508875.1:n.2901+329_2901+330delinsCT
NM_000393.5:c.3039+329_3039+330delinsCT MANE Select	NP_000384.2:n.3039+329_3039+330delinsCT