Canonical Allele Identifier: CA2695235595

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108568787_108568788insGT , CM000685.2:g.108568787_108568788insGT	GRCh38
NC_000023.10:g.107812017_107812018insGT , CM000685.1:g.107812017_107812018insGT	GRCh37
NC_000023.9:g.107698673_107698674insGT	NCBI36
NG_011977.1:g.133864_133865insGT
NG_011977.2:g.133864_133865insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.350_351insGT MANE Select	ENSP00000331902.7:p.Pro118TyrfsTer?
ENST00000361603.7:c.350_351insGT	ENSP00000354505.2:p.Pro118TyrfsTer?
ENST00000328300.10:c.350_351insGT	ENSP00000331902.6:p.Pro118TyrfsTer?
ENST00000361603.6:c.350_351insGT	ENSP00000354505.2:p.Pro118TyrfsTer?
ENST00000470339.1:n.534_535insGT
NM_000495.4:c.350_351insGT	NP_000486.1:p.Pro118TyrfsTer?
NM_033380.2:c.350_351insGT	NP_203699.1:p.Pro118TyrfsTer?
XM_005262070.2:c.350_351insGT	XP_005262127.1:p.Pro118TyrfsTer?
XM_005262072.3:c.350_351insGT	XP_005262129.1:p.Pro118TyrfsTer?
XM_006724616.2:c.350_351insGT	XP_006724679.1:p.Pro118TyrfsTer?
XM_011530849.1:c.26_27insGT	XP_011529151.1:p.Pro10TyrfsTer?
XM_011530850.1:c.350_351insGT	XP_011529152.1:p.Pro118TyrfsTer?
XM_011530849.2:c.365_366insGT	XP_011529151.2:p.Pro123TyrfsTer?
XM_017029259.2:c.365_366insGT	XP_016884748.1:p.Pro123TyrfsTer?
XM_017029260.1:c.365_366insGT	XP_016884749.1:p.Pro123TyrfsTer?
XM_017029261.1:c.365_366insGT	XP_016884750.1:p.Pro123TyrfsTer?
XM_017029262.2:c.365_366insGT	XP_016884751.1:p.Pro123TyrfsTer?
NM_000495.5:c.350_351insGT	NP_000486.1:p.Pro118TyrfsTer?
NM_033380.3:c.350_351insGT MANE Select	NP_203699.1:p.Pro118TyrfsTer?