Canonical Allele Identifier: CA1315424881

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050302_189050303delinsGA , CM000664.2:g.189050302_189050303delinsGA	GRCh38
NC_000002.11:g.189915028_189915029delinsGA , CM000664.1:g.189915028_189915029delinsGA	GRCh37
NC_000002.10:g.189623273_189623274delinsGA	NCBI36
NG_011799.1:g.134577_134578delinsTC
NG_011799.2:g.134577_134578delinsTC
NG_011799.3:g.179999_180000delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+266_3039+267delinsTC MANE Select	ENSP00000364000.3:n.3039+266_3039+267delinsTC
ENST00000374866.7:c.3039+266_3039+267delinsTC	ENSP00000364000.3:n.3039+266_3039+267delinsTC
ENST00000618828.1:c.1878+266_1878+267delinsTC	ENSP00000482184.1:n.1878+266_1878+267delinsTC
NM_000393.3:c.3039+266_3039+267delinsTC	NP_000384.2:n.3039+266_3039+267delinsTC
XM_011510573.1:c.2901+266_2901+267delinsTC	XP_011508875.1:n.2901+266_2901+267delinsTC
NM_000393.4:c.3039+266_3039+267delinsTC	NP_000384.2:n.3039+266_3039+267delinsTC
XM_011510573.3:c.2901+266_2901+267delinsTC	XP_011508875.1:n.2901+266_2901+267delinsTC
NM_000393.5:c.3039+266_3039+267delinsTC MANE Select	NP_000384.2:n.3039+266_3039+267delinsTC