Canonical Allele Identifier: CA2450719253

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687542_108687543delinsCT , CM000685.2:g.108687542_108687543delinsCT	GRCh38
NC_000023.10:g.107930772_107930773delinsCT , CM000685.1:g.107930772_107930773delinsCT	GRCh37
NC_000023.9:g.107817428_107817429delinsCT	NCBI36
NG_011977.1:g.252619_252620delinsCT
NG_011977.2:g.252619_252620delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4376_4377delinsCT MANE Select	ENSP00000331902.7:p.Pro1459=
ENST00000361603.7:c.4358_4359delinsCT	ENSP00000354505.2:p.Pro1453=
ENST00000510690.2:n.870_871delinsCT
ENST00000328300.10:c.4376_4377delinsCT	ENSP00000331902.6:p.Pro1459=
ENST00000361603.6:c.4358_4359delinsCT	ENSP00000354505.2:p.Pro1453=
ENST00000515658.1:c.172_173delinsCT
NM_000495.4:c.4358_4359delinsCT	NP_000486.1:p.Pro1453=
NM_033380.2:c.4376_4377delinsCT	NP_203699.1:p.Pro1459=
XM_005262070.2:c.4367_4368delinsCT	XP_005262127.1:p.Pro1456=
XM_006724616.2:c.4376_4377delinsCT	XP_006724679.1:p.Pro1459=
XM_011530849.1:c.4052_4053delinsCT	XP_011529151.1:p.Pro1351=
XM_011530851.1:c.1949_1950delinsCT	XP_011529153.1:p.Pro650=
XM_011530849.2:c.4391_4392delinsCT	XP_011529151.2:p.Pro1464=
XM_017029259.2:c.4382_4383delinsCT	XP_016884748.1:p.Pro1461=
XM_017029260.1:c.4373_4374delinsCT	XP_016884749.1:p.Pro1458=
XM_017029263.2:c.2711_2712delinsCT	XP_016884752.1:p.Pro904=
NM_000495.5:c.4358_4359delinsCT	NP_000486.1:p.Pro1453=
NM_033380.3:c.4376_4377delinsCT MANE Select	NP_203699.1:p.Pro1459=