Canonical Allele Identifier: CA1315428550

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058902_189058903delinsAC , CM000664.2:g.189058902_189058903delinsAC	GRCh38
NC_000002.11:g.189923628_189923629delinsAC , CM000664.1:g.189923628_189923629delinsAC	GRCh37
NC_000002.10:g.189631873_189631874delinsAC	NCBI36
NG_011799.1:g.125977_125978delinsGT
NG_011799.2:g.125977_125978delinsGT
NG_011799.3:g.171399_171400delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-10_2086-9delinsGT MANE Select	ENSP00000364000.3:n.2086-10_2086-9delinsGT
ENST00000374866.7:c.2086-10_2086-9delinsGT	ENSP00000364000.3:n.2086-10_2086-9delinsGT
ENST00000470524.2:n.192-10_192-9delinsGT
ENST00000618828.1:c.925-10_925-9delinsGT	ENSP00000482184.1:n.925-10_925-9delinsGT
NM_000393.3:c.2086-10_2086-9delinsGT	NP_000384.2:n.2086-10_2086-9delinsGT
XM_011510573.1:c.1948-10_1948-9delinsGT	XP_011508875.1:n.1948-10_1948-9delinsGT
NM_000393.4:c.2086-10_2086-9delinsGT	NP_000384.2:n.2086-10_2086-9delinsGT
XM_011510573.3:c.1948-10_1948-9delinsGT	XP_011508875.1:n.1948-10_1948-9delinsGT
NM_000393.5:c.2086-10_2086-9delinsGT MANE Select	NP_000384.2:n.2086-10_2086-9delinsGT