Canonical Allele Identifier: CA2505744004

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098588_189098589insAACATTA , CM000664.2:g.189098588_189098589insAACATTA	GRCh38
NC_000002.11:g.189963314_189963315insAACATTA , CM000664.1:g.189963314_189963315insAACATTA	GRCh37
NC_000002.10:g.189671559_189671560insAACATTA	NCBI36
NG_011799.1:g.86292_86293insAATGTTT
NG_011799.2:g.86292_86293insAATGTTT
NG_011799.3:g.131714_131715insAATGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+139_402+140insAATGTTT MANE Select	ENSP00000364000.3:n.402+139_402+140insAATGTTT
ENST00000649966.1:c.264+139_264+140insAATGTTT	ENSP00000496785.1:n.264+139_264+140insAATGTTT
ENST00000374866.7:c.402+139_402+140insAATGTTT	ENSP00000364000.3:n.402+139_402+140insAATGTTT
ENST00000618828.1:c.-229+139_-229+140insAATGTTT	ENSP00000482184.1:n.-229+139_-229+140insAATGTTT
NM_000393.3:c.402+139_402+140insAATGTTT	NP_000384.2:n.402+139_402+140insAATGTTT
XM_011510573.1:c.264+139_264+140insAATGTTT	XP_011508875.1:n.264+139_264+140insAATGTTT
NM_000393.4:c.402+139_402+140insAATGTTT	NP_000384.2:n.402+139_402+140insAATGTTT
XM_011510573.3:c.264+139_264+140insAATGTTT	XP_011508875.1:n.264+139_264+140insAATGTTT
NM_000393.5:c.402+139_402+140insAATGTTT MANE Select	NP_000384.2:n.402+139_402+140insAATGTTT