Canonical Allele Identifier: CA2450721899

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695791_108695796delinsCTCCTT , CM000685.2:g.108695791_108695796delinsCTCCTT	GRCh38
NC_000023.10:g.107939021_107939026delinsCTCCTT , CM000685.1:g.107939021_107939026delinsCTCCTT	GRCh37
NC_000023.9:g.107825677_107825682delinsCTCCTT	NCBI36
NG_011977.1:g.260868_260873delinsCTCCTT
NG_011977.2:g.260868_260873delinsCTCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4994+352_4994+357delinsCTCCTT MANE Select	ENSP00000331902.7:n.4994+352_4994+357delinsCTCCTT
ENST00000361603.7:c.4976+352_4976+357delinsCTCCTT	ENSP00000354505.2:n.4976+352_4976+357delinsCTCCTT
ENST00000510690.2:n.1488+352_1488+357delinsCTCCTT
ENST00000644079.1:n.2177_2182delinsCTCCTT
ENST00000328300.10:c.4994+352_4994+357delinsCTCCTT	ENSP00000331902.6:n.4994+352_4994+357delinsCTCCTT
ENST00000361603.6:c.4976+352_4976+357delinsCTCCTT	ENSP00000354505.2:n.4976+352_4976+357delinsCTCCTT
ENST00000504541.1:c.220-506_220-501delinsCTCCTT	ENSP00000424845.1:n.220-506_220-501delinsCTCCTT
ENST00000515658.1:c.325-506_325-501delinsCTCCTT
NM_000495.4:c.4976+352_4976+357delinsCTCCTT	NP_000486.1:n.4976+352_4976+357delinsCTCCTT
NM_033380.2:c.4994+352_4994+357delinsCTCCTT	NP_203699.1:n.4994+352_4994+357delinsCTCCTT
XM_005262070.2:c.4985+352_4985+357delinsCTCCTT	XP_005262127.1:n.4985+352_4985+357delinsCTCCTT
XM_006724616.2:c.4994+352_4994+357delinsCTCCTT	XP_006724679.1:n.4994+352_4994+357delinsCTCCTT
XM_011530849.1:c.4670+352_4670+357delinsCTCCTT	XP_011529151.1:n.4670+352_4670+357delinsCTCCTT
XM_011530851.1:c.2567+352_2567+357delinsCTCCTT	XP_011529153.1:n.2567+352_2567+357delinsCTCCTT
XM_011530849.2:c.5009+352_5009+357delinsCTCCTT	XP_011529151.2:n.5009+352_5009+357delinsCTCCTT
XM_017029259.2:c.5000+352_5000+357delinsCTCCTT	XP_016884748.1:n.5000+352_5000+357delinsCTCCTT
XM_017029260.1:c.4991+352_4991+357delinsCTCCTT	XP_016884749.1:n.4991+352_4991+357delinsCTCCTT
XM_017029263.2:c.3329+352_3329+357delinsCTCCTT	XP_016884752.1:n.3329+352_3329+357delinsCTCCTT
NM_000495.5:c.4976+352_4976+357delinsCTCCTT	NP_000486.1:n.4976+352_4976+357delinsCTCCTT
NM_033380.3:c.4994+352_4994+357delinsCTCCTT MANE Select	NP_203699.1:n.4994+352_4994+357delinsCTCCTT