Canonical Allele Identifier: CA2695235232

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686109del , CM000685.2:g.108686109del	GRCh38
NC_000023.10:g.107929339del , CM000685.1:g.107929339del	GRCh37
NC_000023.9:g.107815995del	NCBI36
NG_011977.1:g.251186del
NG_011977.2:g.251186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4295del MANE Select	ENSP00000331902.7:p.Pro1432GlnfsTer?
ENST00000361603.7:c.4277del	ENSP00000354505.2:p.Pro1426GlnfsTer?
ENST00000510690.2:n.789del
ENST00000328300.10:c.4295del	ENSP00000331902.6:p.Pro1432GlnfsTer?
ENST00000361603.6:c.4277del	ENSP00000354505.2:p.Pro1426GlnfsTer?
ENST00000489230.1:n.698del
ENST00000515658.1:c.91del
NM_000495.4:c.4277del	NP_000486.1:p.Pro1426GlnfsTer?
NM_033380.2:c.4295del	NP_203699.1:p.Pro1432GlnfsTer?
XM_005262070.2:c.4286del	XP_005262127.1:p.Pro1429GlnfsTer?
XM_006724616.2:c.4295del	XP_006724679.1:p.Pro1432GlnfsTer?
XM_011530849.1:c.3971del	XP_011529151.1:p.Pro1324GlnfsTer?
XM_011530851.1:c.1868del	XP_011529153.1:p.Pro623GlnfsTer?
XM_011530849.2:c.4310del	XP_011529151.2:p.Pro1437GlnfsTer?
XM_017029259.2:c.4301del	XP_016884748.1:p.Pro1434GlnfsTer?
XM_017029260.1:c.4292del	XP_016884749.1:p.Pro1431GlnfsTer?
XM_017029263.2:c.2630del	XP_016884752.1:p.Pro877GlnfsTer?
NM_000495.5:c.4277del	NP_000486.1:p.Pro1426GlnfsTer?
NM_033380.3:c.4295del MANE Select	NP_203699.1:p.Pro1432GlnfsTer?