Canonical Allele Identifier: CA1315428551

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058903_189058904delinsCA , CM000664.2:g.189058903_189058904delinsCA	GRCh38
NC_000002.11:g.189923629_189923630delinsCA , CM000664.1:g.189923629_189923630delinsCA	GRCh37
NC_000002.10:g.189631874_189631875delinsCA	NCBI36
NG_011799.1:g.125976_125977delinsTG
NG_011799.2:g.125976_125977delinsTG
NG_011799.3:g.171398_171399delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-11_2086-10delinsTG MANE Select	ENSP00000364000.3:n.2086-11_2086-10delinsTG
ENST00000374866.7:c.2086-11_2086-10delinsTG	ENSP00000364000.3:n.2086-11_2086-10delinsTG
ENST00000470524.2:n.192-11_192-10delinsTG
ENST00000618828.1:c.925-11_925-10delinsTG	ENSP00000482184.1:n.925-11_925-10delinsTG
NM_000393.3:c.2086-11_2086-10delinsTG	NP_000384.2:n.2086-11_2086-10delinsTG
XM_011510573.1:c.1948-11_1948-10delinsTG	XP_011508875.1:n.1948-11_1948-10delinsTG
NM_000393.4:c.2086-11_2086-10delinsTG	NP_000384.2:n.2086-11_2086-10delinsTG
XM_011510573.3:c.1948-11_1948-10delinsTG	XP_011508875.1:n.1948-11_1948-10delinsTG
NM_000393.5:c.2086-11_2086-10delinsTG MANE Select	NP_000384.2:n.2086-11_2086-10delinsTG