Canonical Allele Identifier: CA2695235749

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624283_108624286delinsCTGAGTGCCCAGT , CM000685.2:g.108624283_108624286delinsCTGAGTGCCCAGT	GRCh38
NC_000023.10:g.107867513_107867516delinsCTGAGTGCCCAGT , CM000685.1:g.107867513_107867516delinsCTGAGTGCCCAGT	GRCh37
NC_000023.9:g.107754169_107754172delinsCTGAGTGCCCAGT	NCBI36
NG_011977.1:g.189360_189363delinsCTGAGTGCCCAGT
NG_011977.2:g.189360_189363delinsCTGAGTGCCCAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2965_2968delinsCTGAGTGCCCAGT MANE Select	ENSP00000331902.7:p.Asp989_Pro990delinsLe...
ENST00000361603.7:c.2965_2968delinsCTGAGTGCCCAGT	ENSP00000354505.2:p.Asp989_Pro990delinsLe...
ENST00000328300.10:c.2965_2968delinsCTGAGTGCCCAGT	ENSP00000331902.6:p.Asp989_Pro990delinsLe...
ENST00000361603.6:c.2965_2968delinsCTGAGTGCCCAGT	ENSP00000354505.2:p.Asp989_Pro990delinsLe...
ENST00000483338.1:n.2421_2424delinsCTGAGTGCCCAGT
ENST00000505728.1:c.198_201delinsCTGAGTGCCCAGT
NM_000495.4:c.2965_2968delinsCTGAGTGCCCAGT	NP_000486.1:p.Asp989_Pro990delinsLeuSerAl...
NM_033380.2:c.2965_2968delinsCTGAGTGCCCAGT	NP_203699.1:p.Asp989_Pro990delinsLeuSerAl...
XM_005262070.2:c.2965_2968delinsCTGAGTGCCCAGT	XP_005262127.1:p.Asp989_Pro990delinsLeuSe...
XM_005262072.3:c.2965_2968delinsCTGAGTGCCCAGT	XP_005262129.1:p.Asp989_Pro990delinsLeuSe...
XM_006724616.2:c.2965_2968delinsCTGAGTGCCCAGT	XP_006724679.1:p.Asp989_Pro990delinsLeuSe...
XM_011530849.1:c.2641_2644delinsCTGAGTGCCCAGT	XP_011529151.1:p.Asp881_Pro882delinsLeuSe...
XM_011530850.1:c.2965_2968delinsCTGAGTGCCCAGT	XP_011529152.1:p.Asp989_Pro990delinsLeuSe...
XM_011530851.1:c.538_541delinsCTGAGTGCCCAGT	XP_011529153.1:p.Asp180_Pro181delinsLeuSe...
XM_011530849.2:c.2980_2983delinsCTGAGTGCCCAGT	XP_011529151.2:p.Asp994_Pro995delinsLeuSe...
XM_017029259.2:c.2980_2983delinsCTGAGTGCCCAGT	XP_016884748.1:p.Asp994_Pro995delinsLeuSe...
XM_017029260.1:c.2980_2983delinsCTGAGTGCCCAGT	XP_016884749.1:p.Asp994_Pro995delinsLeuSe...
XM_017029261.1:c.2980_2983delinsCTGAGTGCCCAGT	XP_016884750.1:p.Asp994_Pro995delinsLeuSe...
XM_017029262.2:c.2980_2983delinsCTGAGTGCCCAGT	XP_016884751.1:p.Asp994_Pro995delinsLeuSe...
XM_017029263.2:c.1300_1303delinsCTGAGTGCCCAGT	XP_016884752.1:p.Asp434_Pro435delinsLeuSe...
NM_000495.5:c.2965_2968delinsCTGAGTGCCCAGT	NP_000486.1:p.Asp989_Pro990delinsLeuSerAl...
NM_033380.3:c.2965_2968delinsCTGAGTGCCCAGT MANE Select	NP_203699.1:p.Asp989_Pro990delinsLeuSerAl...