Canonical Allele Identifier: CA2579677075

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680921del , CM000685.2:g.108680921del	GRCh38
NC_000023.10:g.107924151del , CM000685.1:g.107924151del	GRCh37
NC_000023.9:g.107810807del	NCBI36
NG_011977.1:g.245998del
NG_011977.2:g.245998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4052del MANE Select	ENSP00000331902.7:p.Gly1351AlafsTer26
ENST00000361603.7:c.4034del	ENSP00000354505.2:p.Gly1345AlafsTer26
ENST00000510690.2:n.546del
ENST00000328300.10:c.4052del	ENSP00000331902.6:p.Gly1351AlafsTer26
ENST00000361603.6:c.4034del	ENSP00000354505.2:p.Gly1345AlafsTer26
ENST00000489230.1:n.455del
NM_000495.4:c.4034del	NP_000486.1:p.Gly1345AlafsTer26
NM_033380.2:c.4052del	NP_203699.1:p.Gly1351AlafsTer26
XM_005262070.2:c.4043del	XP_005262127.1:p.Gly1348AlafsTer26
XM_006724616.2:c.4052del	XP_006724679.1:p.Gly1351AlafsTer26
XM_011530849.1:c.3728del	XP_011529151.1:p.Gly1243AlafsTer26
XM_011530851.1:c.1625del	XP_011529153.1:p.Gly542AlafsTer26
XM_011530849.2:c.4067del	XP_011529151.2:p.Gly1356AlafsTer26
XM_017029259.2:c.4058del	XP_016884748.1:p.Gly1353AlafsTer26
XM_017029260.1:c.4049del	XP_016884749.1:p.Gly1350AlafsTer26
XM_017029263.2:c.2387del	XP_016884752.1:p.Gly796AlafsTer26
NM_000495.5:c.4034del	NP_000486.1:p.Gly1345AlafsTer26
NM_033380.3:c.4052del MANE Select	NP_203699.1:p.Gly1351AlafsTer26