Canonical Allele Identifier: CA1315424935

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050426_189050427delinsCA , CM000664.2:g.189050426_189050427delinsCA	GRCh38
NC_000002.11:g.189915152_189915153delinsCA , CM000664.1:g.189915152_189915153delinsCA	GRCh37
NC_000002.10:g.189623397_189623398delinsCA	NCBI36
NG_011799.1:g.134453_134454delinsTG
NG_011799.2:g.134453_134454delinsTG
NG_011799.3:g.179875_179876delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+142_3039+143delinsTG MANE Select	ENSP00000364000.3:n.3039+142_3039+143delinsTG
ENST00000374866.7:c.3039+142_3039+143delinsTG	ENSP00000364000.3:n.3039+142_3039+143delinsTG
ENST00000618828.1:c.1878+142_1878+143delinsTG	ENSP00000482184.1:n.1878+142_1878+143delinsTG
NM_000393.3:c.3039+142_3039+143delinsTG	NP_000384.2:n.3039+142_3039+143delinsTG
XM_011510573.1:c.2901+142_2901+143delinsTG	XP_011508875.1:n.2901+142_2901+143delinsTG
NM_000393.4:c.3039+142_3039+143delinsTG	NP_000384.2:n.3039+142_3039+143delinsTG
XM_011510573.3:c.2901+142_2901+143delinsTG	XP_011508875.1:n.2901+142_2901+143delinsTG
NM_000393.5:c.3039+142_3039+143delinsTG MANE Select	NP_000384.2:n.3039+142_3039+143delinsTG