Canonical Allele Identifier: CA1315424992

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050529_189050531delinsGCA , CM000664.2:g.189050529_189050531delinsGCA	GRCh38
NC_000002.11:g.189915255_189915257delinsGCA , CM000664.1:g.189915255_189915257delinsGCA	GRCh37
NC_000002.10:g.189623500_189623502delinsGCA	NCBI36
NG_011799.1:g.134349_134351delinsTGC
NG_011799.2:g.134349_134351delinsTGC
NG_011799.3:g.179771_179773delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+38_3039+40delinsTGC MANE Select	ENSP00000364000.3:n.3039+38_3039+40delinsTGC
ENST00000374866.7:c.3039+38_3039+40delinsTGC	ENSP00000364000.3:n.3039+38_3039+40delinsTGC
ENST00000618828.1:c.1878+38_1878+40delinsTGC	ENSP00000482184.1:n.1878+38_1878+40delinsTGC
NM_000393.3:c.3039+38_3039+40delinsTGC	NP_000384.2:n.3039+38_3039+40delinsTGC
XM_011510573.1:c.2901+38_2901+40delinsTGC	XP_011508875.1:n.2901+38_2901+40delinsTGC
NM_000393.4:c.3039+38_3039+40delinsTGC	NP_000384.2:n.3039+38_3039+40delinsTGC
XM_011510573.3:c.2901+38_2901+40delinsTGC	XP_011508875.1:n.2901+38_2901+40delinsTGC
NM_000393.5:c.3039+38_3039+40delinsTGC MANE Select	NP_000384.2:n.3039+38_3039+40delinsTGC