Canonical Allele Identifier: CA1315445941

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098830_189098831delinsAT , CM000664.2:g.189098830_189098831delinsAT	GRCh38
NC_000002.11:g.189963556_189963557delinsAT , CM000664.1:g.189963556_189963557delinsAT	GRCh37
NC_000002.10:g.189671801_189671802delinsAT	NCBI36
NG_011799.1:g.86049_86050delinsAT
NG_011799.2:g.86049_86050delinsAT
NG_011799.3:g.131471_131472delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-72_370-71delinsAT MANE Select	ENSP00000364000.3:n.370-72_370-71delinsAT
ENST00000649966.1:c.232-72_232-71delinsAT	ENSP00000496785.1:n.232-72_232-71delinsAT
ENST00000374866.7:c.370-72_370-71delinsAT	ENSP00000364000.3:n.370-72_370-71delinsAT
ENST00000618828.1:c.-261-72_-261-71delinsAT	ENSP00000482184.1:n.-261-72_-261-71delinsAT
NM_000393.3:c.370-72_370-71delinsAT	NP_000384.2:n.370-72_370-71delinsAT
XM_011510573.1:c.232-72_232-71delinsAT	XP_011508875.1:n.232-72_232-71delinsAT
NM_000393.4:c.370-72_370-71delinsAT	NP_000384.2:n.370-72_370-71delinsAT
XM_011510573.3:c.232-72_232-71delinsAT	XP_011508875.1:n.232-72_232-71delinsAT
NM_000393.5:c.370-72_370-71delinsAT MANE Select	NP_000384.2:n.370-72_370-71delinsAT