Canonical Allele Identifier: CA2695235239

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687676_108687689del , CM000685.2:g.108687676_108687689del	GRCh38
NC_000023.10:g.107930906_107930919del , CM000685.1:g.107930906_107930919del	GRCh37
NC_000023.9:g.107817562_107817575del	NCBI36
NG_011977.1:g.252753_252766del
NG_011977.2:g.252753_252766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4510_4523del MANE Select	ENSP00000331902.7:p.Ala1504LeufsTer12
ENST00000361603.7:c.4492_4505del	ENSP00000354505.2:p.Ala1498LeufsTer12
ENST00000510690.2:n.1004_1017del
ENST00000328300.10:c.4510_4523del	ENSP00000331902.6:p.Ala1504LeufsTer12
ENST00000361603.6:c.4492_4505del	ENSP00000354505.2:p.Ala1498LeufsTer12
ENST00000515658.1:c.306_319del
NM_000495.4:c.4492_4505del	NP_000486.1:p.Ala1498LeufsTer12
NM_033380.2:c.4510_4523del	NP_203699.1:p.Ala1504LeufsTer12
XM_005262070.2:c.4501_4514del	XP_005262127.1:p.Ala1501LeufsTer12
XM_006724616.2:c.4510_4523del	XP_006724679.1:p.Ala1504LeufsTer12
XM_011530849.1:c.4186_4199del	XP_011529151.1:p.Ala1396LeufsTer12
XM_011530851.1:c.2083_2096del	XP_011529153.1:p.Ala695LeufsTer12
XM_011530849.2:c.4525_4538del	XP_011529151.2:p.Ala1509LeufsTer12
XM_017029259.2:c.4516_4529del	XP_016884748.1:p.Ala1506LeufsTer12
XM_017029260.1:c.4507_4520del	XP_016884749.1:p.Ala1503LeufsTer12
XM_017029263.2:c.2845_2858del	XP_016884752.1:p.Ala949LeufsTer12
NM_000495.5:c.4492_4505del	NP_000486.1:p.Ala1498LeufsTer12
NM_033380.3:c.4510_4523del MANE Select	NP_203699.1:p.Ala1504LeufsTer12