Canonical Allele Identifier: CA1315425132

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050855_189050859delinsATTAT , CM000664.2:g.189050855_189050859delinsATTAT	GRCh38
NC_000002.11:g.189915581_189915585delinsATTAT , CM000664.1:g.189915581_189915585delinsATTAT	GRCh37
NC_000002.10:g.189623826_189623830delinsATTAT	NCBI36
NG_011799.1:g.134021_134025delinsATAAT
NG_011799.2:g.134021_134025delinsATAAT
NG_011799.3:g.179443_179447delinsATAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-183_2932-179delinsATAAT MANE Select	ENSP00000364000.3:n.2932-183_2932-179delinsATAAT
ENST00000374866.7:c.2932-183_2932-179delinsATAAT	ENSP00000364000.3:n.2932-183_2932-179delinsATAAT
ENST00000618828.1:c.1771-183_1771-179delinsATAAT	ENSP00000482184.1:n.1771-183_1771-179delinsATAAT
NM_000393.3:c.2932-183_2932-179delinsATAAT	NP_000384.2:n.2932-183_2932-179delinsATAAT
XM_011510573.1:c.2794-183_2794-179delinsATAAT	XP_011508875.1:n.2794-183_2794-179delinsATAAT
NM_000393.4:c.2932-183_2932-179delinsATAAT	NP_000384.2:n.2932-183_2932-179delinsATAAT
XM_011510573.3:c.2794-183_2794-179delinsATAAT	XP_011508875.1:n.2794-183_2794-179delinsATAAT
NM_000393.5:c.2932-183_2932-179delinsATAAT MANE Select	NP_000384.2:n.2932-183_2932-179delinsATAAT