Canonical Allele Identifier: CA1315428553

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058904_189058908delinsATTTT , CM000664.2:g.189058904_189058908delinsATTTT	GRCh38
NC_000002.11:g.189923630_189923634delinsATTTT , CM000664.1:g.189923630_189923634delinsATTTT	GRCh37
NC_000002.10:g.189631875_189631879delinsATTTT	NCBI36
NG_011799.1:g.125972_125976delinsAAAAT
NG_011799.2:g.125972_125976delinsAAAAT
NG_011799.3:g.171394_171398delinsAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-15_2086-11delinsAAAAT MANE Select	ENSP00000364000.3:n.2086-15_2086-11delinsAAAAT
ENST00000374866.7:c.2086-15_2086-11delinsAAAAT	ENSP00000364000.3:n.2086-15_2086-11delinsAAAAT
ENST00000470524.2:n.192-15_192-11delinsAAAAT
ENST00000618828.1:c.925-15_925-11delinsAAAAT	ENSP00000482184.1:n.925-15_925-11delinsAAAAT
NM_000393.3:c.2086-15_2086-11delinsAAAAT	NP_000384.2:n.2086-15_2086-11delinsAAAAT
XM_011510573.1:c.1948-15_1948-11delinsAAAAT	XP_011508875.1:n.1948-15_1948-11delinsAAAAT
NM_000393.4:c.2086-15_2086-11delinsAAAAT	NP_000384.2:n.2086-15_2086-11delinsAAAAT
XM_011510573.3:c.1948-15_1948-11delinsAAAAT	XP_011508875.1:n.1948-15_1948-11delinsAAAAT
NM_000393.5:c.2086-15_2086-11delinsAAAAT MANE Select	NP_000384.2:n.2086-15_2086-11delinsAAAAT