Canonical Allele Identifier: CA2450695936

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108620289_108620313delinsATCCAGGACCTCCTGGACTTGATGT , CM000685.2:g.108620289_108620313delinsATCCAGGACCTCCTGGACTTGATGT	GRCh38
NC_000023.10:g.107863519_107863543delinsATCCAGGACCTCCTGGACTTGATGT , CM000685.1:g.107863519_107863543delinsATCCAGGACCTCCTGGACTTGATGT	GRCh37
NC_000023.9:g.107750175_107750199delinsATCCAGGACCTCCTGGACTTGATGT	NCBI36
NG_011977.1:g.185366_185390delinsATCCAGGACCTCCTGGACTTGATGT
NG_011977.2:g.185366_185390delinsATCCAGGACCTCCTGGACTTGATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT MANE Select	ENSP00000331902.7:p.Asp847=
ENST00000361603.7:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	ENSP00000354505.2:p.Asp847=
ENST00000328300.10:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	ENSP00000331902.6:p.Asp847=
ENST00000361603.6:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	ENSP00000354505.2:p.Asp847=
ENST00000483338.1:n.1996_2020delinsATCCAGGACCTCCTGGACTTGATGT
NM_000495.4:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	NP_000486.1:p.Asp847=
NM_033380.2:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	NP_203699.1:p.Asp847=
XM_005262070.2:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	XP_005262127.1:p.Asp847=
XM_005262072.3:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	XP_005262129.1:p.Asp847=
XM_006724616.2:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	XP_006724679.1:p.Asp847=
XM_011530849.1:c.2216_2240delinsATCCAGGACCTCCTGGACTTGATGT	XP_011529151.1:p.Asp739=
XM_011530850.1:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	XP_011529152.1:p.Asp847=
XM_011530851.1:c.113_137delinsATCCAGGACCTCCTGGACTTGATGT	XP_011529153.1:p.Asp38=
XM_011530849.2:c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT	XP_011529151.2:p.Asp852=
XM_017029259.2:c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT	XP_016884748.1:p.Asp852=
XM_017029260.1:c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT	XP_016884749.1:p.Asp852=
XM_017029261.1:c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT	XP_016884750.1:p.Asp852=
XM_017029262.2:c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT	XP_016884751.1:p.Asp852=
XM_017029263.2:c.875_899delinsATCCAGGACCTCCTGGACTTGATGT	XP_016884752.1:p.Asp292=
NM_000495.5:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT	NP_000486.1:p.Asp847=
NM_033380.3:c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT MANE Select	NP_203699.1:p.Asp847=