Canonical Allele Identifier: CA2512878891

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA , CM000685.2:g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	GRCh38
NC_000023.10:g.107869540_107869541insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA , CM000685.1:g.107869540_107869541insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	GRCh37
NC_000023.9:g.107756196_107756197insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	NCBI36
NG_011977.1:g.191387_191388insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA
NG_011977.2:g.191387_191388insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA MANE Select	ENSP00000331902.7:p.Ile1070AlafsTer?
ENST00000361603.7:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	ENSP00000354505.2:p.Ile1070AlafsTer?
ENST00000328300.10:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	ENSP00000331902.6:p.Ile1070AlafsTer?
ENST00000361603.6:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	ENSP00000354505.2:p.Ile1070AlafsTer?
ENST00000483338.1:n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA
ENST00000505728.1:c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA
NM_000495.4:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	NP_000486.1:p.Ile1070AlafsTer?
NM_033380.2:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	NP_203699.1:p.Ile1070AlafsTer?
XM_005262070.2:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_005262127.1:p.Ile1070AlafsTer?
XM_005262072.3:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_005262129.1:p.Ile1070AlafsTer40
XM_006724616.2:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_006724679.1:p.Ile1070AlafsTer?
XM_011530849.1:c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_011529151.1:p.Ile962AlafsTer?
XM_011530850.1:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_011529152.1:p.Ile1070AlafsTer?
XM_011530851.1:c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_011529153.1:p.Ile261AlafsTer?
XM_011530849.2:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_011529151.2:p.Ile1075AlafsTer?
XM_017029259.2:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_016884748.1:p.Ile1075AlafsTer?
XM_017029260.1:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_016884749.1:p.Ile1075AlafsTer?
XM_017029261.1:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_016884750.1:p.Ile1075AlafsTer?
XM_017029262.2:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_016884751.1:p.Ile1075AlafsTer?
XM_017029263.2:c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	XP_016884752.1:p.Ile515AlafsTer?
NM_000495.5:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA	NP_000486.1:p.Ile1070AlafsTer?
NM_033380.3:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA MANE Select	NP_203699.1:p.Ile1070AlafsTer?