Canonical Allele Identifier: CA2579677125

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686058del , CM000685.2:g.108686058del	GRCh38
NC_000023.10:g.107929288del , CM000685.1:g.107929288del	GRCh37
NC_000023.9:g.107815944del	NCBI36
NG_011977.1:g.251135del
NG_011977.2:g.251135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4244del MANE Select	ENSP00000331902.7:p.Gly1415AspfsTer?
ENST00000361603.7:c.4226del	ENSP00000354505.2:p.Gly1409AspfsTer?
ENST00000510690.2:n.738del
ENST00000328300.10:c.4244del	ENSP00000331902.6:p.Gly1415AspfsTer?
ENST00000361603.6:c.4226del	ENSP00000354505.2:p.Gly1409AspfsTer?
ENST00000489230.1:n.647del
ENST00000515658.1:c.40del
NM_000495.4:c.4226del	NP_000486.1:p.Gly1409AspfsTer?
NM_033380.2:c.4244del	NP_203699.1:p.Gly1415AspfsTer?
XM_005262070.2:c.4235del	XP_005262127.1:p.Gly1412AspfsTer?
XM_006724616.2:c.4244del	XP_006724679.1:p.Gly1415AspfsTer?
XM_011530849.1:c.3920del	XP_011529151.1:p.Gly1307AspfsTer?
XM_011530851.1:c.1817del	XP_011529153.1:p.Gly606AspfsTer?
XM_011530849.2:c.4259del	XP_011529151.2:p.Gly1420AspfsTer?
XM_017029259.2:c.4250del	XP_016884748.1:p.Gly1417AspfsTer?
XM_017029260.1:c.4241del	XP_016884749.1:p.Gly1414AspfsTer?
XM_017029263.2:c.2579del	XP_016884752.1:p.Gly860AspfsTer?
NM_000495.5:c.4226del	NP_000486.1:p.Gly1409AspfsTer?
NM_033380.3:c.4244del MANE Select	NP_203699.1:p.Gly1415AspfsTer?