Canonical Allele Identifier: CA2497029596

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058904_189058905delinsAT , CM000664.2:g.189058904_189058905delinsAT	GRCh38
NC_000002.11:g.189923630_189923631delinsAT , CM000664.1:g.189923630_189923631delinsAT	GRCh37
NC_000002.10:g.189631875_189631876delinsAT	NCBI36
NG_011799.1:g.125975_125976delinsAT
NG_011799.2:g.125975_125976delinsAT
NG_011799.3:g.171397_171398delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-12_2086-11delinsAT MANE Select	ENSP00000364000.3:n.2086-12_2086-11delinsAT
ENST00000374866.7:c.2086-12_2086-11delinsAT	ENSP00000364000.3:n.2086-12_2086-11delinsAT
ENST00000470524.2:n.192-12_192-11delinsAT
ENST00000618828.1:c.925-12_925-11delinsAT	ENSP00000482184.1:n.925-12_925-11delinsAT
NM_000393.3:c.2086-12_2086-11delinsAT	NP_000384.2:n.2086-12_2086-11delinsAT
XM_011510573.1:c.1948-12_1948-11delinsAT	XP_011508875.1:n.1948-12_1948-11delinsAT
NM_000393.4:c.2086-12_2086-11delinsAT	NP_000384.2:n.2086-12_2086-11delinsAT
XM_011510573.3:c.1948-12_1948-11delinsAT	XP_011508875.1:n.1948-12_1948-11delinsAT
NM_000393.5:c.2086-12_2086-11delinsAT MANE Select	NP_000384.2:n.2086-12_2086-11delinsAT