Canonical Allele Identifier: CA2579992072

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694872del , CM000685.2:g.108694872del	GRCh38
NC_000023.10:g.107938102del , CM000685.1:g.107938102del	GRCh37
NC_000023.9:g.107824758del	NCBI36
NG_011977.1:g.259949del
NG_011977.2:g.259949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4772del MANE Select	ENSP00000331902.7:p.His1591LeufsTer16
ENST00000361603.7:c.4754del	ENSP00000354505.2:p.His1585LeufsTer16
ENST00000510690.2:n.1266del
ENST00000644079.1:n.1258del
ENST00000328300.10:c.4772del	ENSP00000331902.6:p.His1591LeufsTer16
ENST00000361603.6:c.4754del	ENSP00000354505.2:p.His1585LeufsTer16
ENST00000504541.1:c.170del	ENSP00000424845.1:p.His57LeufsTer16
ENST00000515658.1:c.325-1425del
NM_000495.4:c.4754del	NP_000486.1:p.His1585LeufsTer16
NM_033380.2:c.4772del	NP_203699.1:p.His1591LeufsTer16
XM_005262070.2:c.4763del	XP_005262127.1:p.His1588LeufsTer16
XM_006724616.2:c.4772del	XP_006724679.1:p.His1591LeufsTer16
XM_011530849.1:c.4448del	XP_011529151.1:p.His1483LeufsTer16
XM_011530851.1:c.2345del	XP_011529153.1:p.His782LeufsTer16
XM_011530849.2:c.4787del	XP_011529151.2:p.His1596LeufsTer16
XM_017029259.2:c.4778del	XP_016884748.1:p.His1593LeufsTer16
XM_017029260.1:c.4769del	XP_016884749.1:p.His1590LeufsTer16
XM_017029263.2:c.3107del	XP_016884752.1:p.His1036LeufsTer16
NM_000495.5:c.4754del	NP_000486.1:p.His1585LeufsTer16
NM_033380.3:c.4772del MANE Select	NP_203699.1:p.His1591LeufsTer16