Canonical Allele Identifier: CA2695235247

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694852_108694855del , CM000685.2:g.108694852_108694855del	GRCh38
NC_000023.10:g.107938082_107938085del , CM000685.1:g.107938082_107938085del	GRCh37
NC_000023.9:g.107824738_107824741del	NCBI36
NG_011977.1:g.259929_259932del
NG_011977.2:g.259929_259932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4752_4755del MANE Select	ENSP00000331902.7:p.Ser1584ArgfsTer22
ENST00000361603.7:c.4734_4737del	ENSP00000354505.2:p.Ser1578ArgfsTer22
ENST00000510690.2:n.1246_1249del
ENST00000644079.1:n.1238_1241del
ENST00000328300.10:c.4752_4755del	ENSP00000331902.6:p.Ser1584ArgfsTer22
ENST00000361603.6:c.4734_4737del	ENSP00000354505.2:p.Ser1578ArgfsTer22
ENST00000504541.1:c.150_153del	ENSP00000424845.1:p.Ser50ArgfsTer22
ENST00000515658.1:c.325-1445_325-1442del
NM_000495.4:c.4734_4737del	NP_000486.1:p.Ser1578ArgfsTer22
NM_033380.2:c.4752_4755del	NP_203699.1:p.Ser1584ArgfsTer22
XM_005262070.2:c.4743_4746del	XP_005262127.1:p.Ser1581ArgfsTer22
XM_006724616.2:c.4752_4755del	XP_006724679.1:p.Ser1584ArgfsTer22
XM_011530849.1:c.4428_4431del	XP_011529151.1:p.Ser1476ArgfsTer22
XM_011530851.1:c.2325_2328del	XP_011529153.1:p.Ser775ArgfsTer22
XM_011530849.2:c.4767_4770del	XP_011529151.2:p.Ser1589ArgfsTer22
XM_017029259.2:c.4758_4761del	XP_016884748.1:p.Ser1586ArgfsTer22
XM_017029260.1:c.4749_4752del	XP_016884749.1:p.Ser1583ArgfsTer22
XM_017029263.2:c.3087_3090del	XP_016884752.1:p.Ser1029ArgfsTer22
NM_000495.5:c.4734_4737del	NP_000486.1:p.Ser1578ArgfsTer22
NM_033380.3:c.4752_4755del MANE Select	NP_203699.1:p.Ser1584ArgfsTer22