Canonical Allele Identifier: CA1315424859

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050265_189050266delinsAT , CM000664.2:g.189050265_189050266delinsAT	GRCh38
NC_000002.11:g.189914991_189914992delinsAT , CM000664.1:g.189914991_189914992delinsAT	GRCh37
NC_000002.10:g.189623236_189623237delinsAT	NCBI36
NG_011799.1:g.134614_134615delinsAT
NG_011799.2:g.134614_134615delinsAT
NG_011799.3:g.180036_180037delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+303_3039+304delinsAT MANE Select	ENSP00000364000.3:n.3039+303_3039+304delinsAT
ENST00000374866.7:c.3039+303_3039+304delinsAT	ENSP00000364000.3:n.3039+303_3039+304delinsAT
ENST00000618828.1:c.1878+303_1878+304delinsAT	ENSP00000482184.1:n.1878+303_1878+304delinsAT
NM_000393.3:c.3039+303_3039+304delinsAT	NP_000384.2:n.3039+303_3039+304delinsAT
XM_011510573.1:c.2901+303_2901+304delinsAT	XP_011508875.1:n.2901+303_2901+304delinsAT
NM_000393.4:c.3039+303_3039+304delinsAT	NP_000384.2:n.3039+303_3039+304delinsAT
XM_011510573.3:c.2901+303_2901+304delinsAT	XP_011508875.1:n.2901+303_2901+304delinsAT
NM_000393.5:c.3039+303_3039+304delinsAT MANE Select	NP_000384.2:n.3039+303_3039+304delinsAT