Canonical Allele Identifier: CA2842125680

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687533dup , CM000685.2:g.108687533dup	GRCh38
NC_000023.10:g.107930763dup , CM000685.1:g.107930763dup	GRCh37
NC_000023.9:g.107817419dup	NCBI36
NG_011977.1:g.252610dup
NG_011977.2:g.252610dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4367dup MANE Select	ENSP00000331902.7:p.Gly1457ArgfsTer?
ENST00000361603.7:c.4349dup	ENSP00000354505.2:p.Gly1451ArgfsTer?
ENST00000510690.2:n.861dup
ENST00000328300.10:c.4367dup	ENSP00000331902.6:p.Gly1457ArgfsTer?
ENST00000361603.6:c.4349dup	ENSP00000354505.2:p.Gly1451ArgfsTer?
ENST00000515658.1:c.163dup
NM_000495.4:c.4349dup	NP_000486.1:p.Gly1451ArgfsTer?
NM_033380.2:c.4367dup	NP_203699.1:p.Gly1457ArgfsTer?
XM_005262070.2:c.4358dup	XP_005262127.1:p.Gly1454ArgfsTer?
XM_006724616.2:c.4367dup	XP_006724679.1:p.Gly1457ArgfsTer?
XM_011530849.1:c.4043dup	XP_011529151.1:p.Gly1349ArgfsTer?
XM_011530851.1:c.1940dup	XP_011529153.1:p.Gly648ArgfsTer?
XM_011530849.2:c.4382dup	XP_011529151.2:p.Gly1462ArgfsTer?
XM_017029259.2:c.4373dup	XP_016884748.1:p.Gly1459ArgfsTer?
XM_017029260.1:c.4364dup	XP_016884749.1:p.Gly1456ArgfsTer?
XM_017029263.2:c.2702dup	XP_016884752.1:p.Gly902ArgfsTer?
NM_000495.5:c.4349dup	NP_000486.1:p.Gly1451ArgfsTer?
NM_033380.3:c.4367dup MANE Select	NP_203699.1:p.Gly1457ArgfsTer?