Canonical Allele Identifier: CA2695235750

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624308_108624309insGCAACCTGGACTGAGTGT , CM000685.2:g.108624308_108624309insGCAACCTGGACTGAGTGT	GRCh38
NC_000023.10:g.107867538_107867539insGCAACCTGGACTGAGTGT , CM000685.1:g.107867538_107867539insGCAACCTGGACTGAGTGT	GRCh37
NC_000023.9:g.107754194_107754195insGCAACCTGGACTGAGTGT	NCBI36
NG_011977.1:g.189385_189386insGCAACCTGGACTGAGTGT
NG_011977.2:g.189385_189386insGCAACCTGGACTGAGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2990_2991insGCAACCTGGACTGAGTGT MANE Select	ENSP00000331902.7:p.Gly997_Gln998insGlnProGlyLeuSerVal
ENST00000361603.7:c.2990_2991insGCAACCTGGACTGAGTGT	ENSP00000354505.2:p.Gly997_Gln998insGlnProGlyLeuSerVal
ENST00000328300.10:c.2990_2991insGCAACCTGGACTGAGTGT	ENSP00000331902.6:p.Gly997_Gln998insGlnProGlyLeuSerVal
ENST00000361603.6:c.2990_2991insGCAACCTGGACTGAGTGT	ENSP00000354505.2:p.Gly997_Gln998insGlnProGlyLeuSerVal
ENST00000483338.1:n.2446_2447insGCAACCTGGACTGAGTGT
ENST00000505728.1:c.223_224insGCAACCTGGACTGAGTGT
NM_000495.4:c.2990_2991insGCAACCTGGACTGAGTGT	NP_000486.1:p.Gly997_Gln998insGlnProGlyLeuSerVal
NM_033380.2:c.2990_2991insGCAACCTGGACTGAGTGT	NP_203699.1:p.Gly997_Gln998insGlnProGlyLeuSerVal
XM_005262070.2:c.2990_2991insGCAACCTGGACTGAGTGT	XP_005262127.1:p.Gly997_Gln998insGlnProGlyLeuSerVal
XM_005262072.3:c.2990_2991insGCAACCTGGACTGAGTGT	XP_005262129.1:p.Gly997_Gln998insGlnProGlyLeuSerVal
XM_006724616.2:c.2990_2991insGCAACCTGGACTGAGTGT	XP_006724679.1:p.Gly997_Gln998insGlnProGlyLeuSerVal
XM_011530849.1:c.2666_2667insGCAACCTGGACTGAGTGT	XP_011529151.1:p.Gly889_Gln890insGlnProGlyLeuSerVal
XM_011530850.1:c.2990_2991insGCAACCTGGACTGAGTGT	XP_011529152.1:p.Gly997_Gln998insGlnProGlyLeuSerVal
XM_011530851.1:c.563_564insGCAACCTGGACTGAGTGT	XP_011529153.1:p.Gly188_Gln189insGlnProGlyLeuSerVal
XM_011530849.2:c.3005_3006insGCAACCTGGACTGAGTGT	XP_011529151.2:p.Gly1002_Gln1003insGlnProGlyLeuSerVal
XM_017029259.2:c.3005_3006insGCAACCTGGACTGAGTGT	XP_016884748.1:p.Gly1002_Gln1003insGlnProGlyLeuSerVal
XM_017029260.1:c.3005_3006insGCAACCTGGACTGAGTGT	XP_016884749.1:p.Gly1002_Gln1003insGlnProGlyLeuSerVal
XM_017029261.1:c.3005_3006insGCAACCTGGACTGAGTGT	XP_016884750.1:p.Gly1002_Gln1003insGlnProGlyLeuSerVal
XM_017029262.2:c.3005_3006insGCAACCTGGACTGAGTGT	XP_016884751.1:p.Gly1002_Gln1003insGlnProGlyLeuSerVal
XM_017029263.2:c.1325_1326insGCAACCTGGACTGAGTGT	XP_016884752.1:p.Gly442_Gln443insGlnProGlyLeuSerVal
NM_000495.5:c.2990_2991insGCAACCTGGACTGAGTGT	NP_000486.1:p.Gly997_Gln998insGlnProGlyLeuSerVal
NM_033380.3:c.2990_2991insGCAACCTGGACTGAGTGT MANE Select	NP_203699.1:p.Gly997_Gln998insGlnProGlyLeuSerVal