Canonical Allele Identifier: CA2450721900

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068723630

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695795_108695799del , CM000685.2:g.108695795_108695799del	GRCh38
NC_000023.10:g.107939025_107939029del , CM000685.1:g.107939025_107939029del	GRCh37
NC_000023.9:g.107825681_107825685del	NCBI36
NG_011977.1:g.260872_260876del
NG_011977.2:g.260872_260876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4994+356_4994+360del MANE Select	ENSP00000331902.7:n.4994+356_4994+360del
ENST00000361603.7:c.4976+356_4976+360del	ENSP00000354505.2:n.4976+356_4976+360del
ENST00000510690.2:n.1488+356_1488+360del
ENST00000644079.1:n.2181_2185del
ENST00000328300.10:c.4994+356_4994+360del	ENSP00000331902.6:n.4994+356_4994+360del
ENST00000361603.6:c.4976+356_4976+360del	ENSP00000354505.2:n.4976+356_4976+360del
ENST00000504541.1:c.220-502_220-498del	ENSP00000424845.1:n.220-502_220-498del
ENST00000515658.1:c.325-502_325-498del
NM_000495.4:c.4976+356_4976+360del	NP_000486.1:n.4976+356_4976+360del
NM_033380.2:c.4994+356_4994+360del	NP_203699.1:n.4994+356_4994+360del
XM_005262070.2:c.4985+356_4985+360del	XP_005262127.1:n.4985+356_4985+360del
XM_006724616.2:c.4994+356_4994+360del	XP_006724679.1:n.4994+356_4994+360del
XM_011530849.1:c.4670+356_4670+360del	XP_011529151.1:n.4670+356_4670+360del
XM_011530851.1:c.2567+356_2567+360del	XP_011529153.1:n.2567+356_2567+360del
XM_011530849.2:c.5009+356_5009+360del	XP_011529151.2:n.5009+356_5009+360del
XM_017029259.2:c.5000+356_5000+360del	XP_016884748.1:n.5000+356_5000+360del
XM_017029260.1:c.4991+356_4991+360del	XP_016884749.1:n.4991+356_4991+360del
XM_017029263.2:c.3329+356_3329+360del	XP_016884752.1:n.3329+356_3329+360del
NM_000495.5:c.4976+356_4976+360del	NP_000486.1:n.4976+356_4976+360del
NM_033380.3:c.4994+356_4994+360del MANE Select	NP_203699.1:n.4994+356_4994+360del