Canonical Allele Identifier: CA1315445938

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098827_189098831delinsCAAAT , CM000664.2:g.189098827_189098831delinsCAAAT	GRCh38
NC_000002.11:g.189963553_189963557delinsCAAAT , CM000664.1:g.189963553_189963557delinsCAAAT	GRCh37
NC_000002.10:g.189671798_189671802delinsCAAAT	NCBI36
NG_011799.1:g.86049_86053delinsATTTG
NG_011799.2:g.86049_86053delinsATTTG
NG_011799.3:g.131471_131475delinsATTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-72_370-68delinsATTTG MANE Select	ENSP00000364000.3:n.370-72_370-68delinsATTTG
ENST00000649966.1:c.232-72_232-68delinsATTTG	ENSP00000496785.1:n.232-72_232-68delinsATTTG
ENST00000374866.7:c.370-72_370-68delinsATTTG	ENSP00000364000.3:n.370-72_370-68delinsATTTG
ENST00000618828.1:c.-261-72_-261-68delinsATTTG	ENSP00000482184.1:n.-261-72_-261-68delinsATTTG
NM_000393.3:c.370-72_370-68delinsATTTG	NP_000384.2:n.370-72_370-68delinsATTTG
XM_011510573.1:c.232-72_232-68delinsATTTG	XP_011508875.1:n.232-72_232-68delinsATTTG
NM_000393.4:c.370-72_370-68delinsATTTG	NP_000384.2:n.370-72_370-68delinsATTTG
XM_011510573.3:c.232-72_232-68delinsATTTG	XP_011508875.1:n.232-72_232-68delinsATTTG
NM_000393.5:c.370-72_370-68delinsATTTG MANE Select	NP_000384.2:n.370-72_370-68delinsATTTG