Canonical Allele Identifier: CA2739290539

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108620349dup , CM000685.2:g.108620349dup	GRCh38
NC_000023.10:g.107863579dup , CM000685.1:g.107863579dup	GRCh37
NC_000023.9:g.107750235dup	NCBI36
NG_011977.1:g.185426dup
NG_011977.2:g.185426dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2600dup MANE Select	ENSP00000331902.7:p.Gly869ArgfsTer29
ENST00000361603.7:c.2600dup	ENSP00000354505.2:p.Gly869ArgfsTer29
ENST00000328300.10:c.2600dup	ENSP00000331902.6:p.Gly869ArgfsTer29
ENST00000361603.6:c.2600dup	ENSP00000354505.2:p.Gly869ArgfsTer29
ENST00000483338.1:n.2056dup
NM_000495.4:c.2600dup	NP_000486.1:p.Gly869ArgfsTer29
NM_033380.2:c.2600dup	NP_203699.1:p.Gly869ArgfsTer29
XM_005262070.2:c.2600dup	XP_005262127.1:p.Gly869ArgfsTer29
XM_005262072.3:c.2600dup	XP_005262129.1:p.Gly869ArgfsTer29
XM_006724616.2:c.2600dup	XP_006724679.1:p.Gly869ArgfsTer29
XM_011530849.1:c.2276dup	XP_011529151.1:p.Gly761ArgfsTer29
XM_011530850.1:c.2600dup	XP_011529152.1:p.Gly869ArgfsTer29
XM_011530851.1:c.173dup	XP_011529153.1:p.Gly60ArgfsTer29
XM_011530849.2:c.2615dup	XP_011529151.2:p.Gly874ArgfsTer29
XM_017029259.2:c.2615dup	XP_016884748.1:p.Gly874ArgfsTer29
XM_017029260.1:c.2615dup	XP_016884749.1:p.Gly874ArgfsTer29
XM_017029261.1:c.2615dup	XP_016884750.1:p.Gly874ArgfsTer29
XM_017029262.2:c.2615dup	XP_016884751.1:p.Gly874ArgfsTer29
XM_017029263.2:c.935dup	XP_016884752.1:p.Gly314ArgfsTer29
NM_000495.5:c.2600dup	NP_000486.1:p.Gly869ArgfsTer29
NM_033380.3:c.2600dup MANE Select	NP_203699.1:p.Gly869ArgfsTer29