Canonical Allele Identifier: CA1315424967

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050491_189050492delinsCA , CM000664.2:g.189050491_189050492delinsCA	GRCh38
NC_000002.11:g.189915217_189915218delinsCA , CM000664.1:g.189915217_189915218delinsCA	GRCh37
NC_000002.10:g.189623462_189623463delinsCA	NCBI36
NG_011799.1:g.134388_134389delinsTG
NG_011799.2:g.134388_134389delinsTG
NG_011799.3:g.179810_179811delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+77_3039+78delinsTG MANE Select	ENSP00000364000.3:n.3039+77_3039+78delinsTG
ENST00000374866.7:c.3039+77_3039+78delinsTG	ENSP00000364000.3:n.3039+77_3039+78delinsTG
ENST00000618828.1:c.1878+77_1878+78delinsTG	ENSP00000482184.1:n.1878+77_1878+78delinsTG
NM_000393.3:c.3039+77_3039+78delinsTG	NP_000384.2:n.3039+77_3039+78delinsTG
XM_011510573.1:c.2901+77_2901+78delinsTG	XP_011508875.1:n.2901+77_2901+78delinsTG
NM_000393.4:c.3039+77_3039+78delinsTG	NP_000384.2:n.3039+77_3039+78delinsTG
XM_011510573.3:c.2901+77_2901+78delinsTG	XP_011508875.1:n.2901+77_2901+78delinsTG
NM_000393.5:c.3039+77_3039+78delinsTG MANE Select	NP_000384.2:n.3039+77_3039+78delinsTG