Canonical Allele Identifier: CA2695235614

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108595525_108595526insG , CM000685.2:g.108595525_108595526insG	GRCh38
NC_000023.10:g.107838755_107838756insG , CM000685.1:g.107838755_107838756insG	GRCh37
NC_000023.9:g.107725411_107725412insG	NCBI36
NG_011977.1:g.160602_160603insG
NG_011977.2:g.160602_160603insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.1440_1441insG MANE Select	ENSP00000331902.7:p.Cys481ValfsTer?
ENST00000361603.7:c.1440_1441insG	ENSP00000354505.2:p.Cys481ValfsTer?
ENST00000328300.10:c.1440_1441insG	ENSP00000331902.6:p.Cys481ValfsTer?
ENST00000361603.6:c.1440_1441insG	ENSP00000354505.2:p.Cys481ValfsTer?
ENST00000483338.1:n.896_897insG
NM_000495.4:c.1440_1441insG	NP_000486.1:p.Cys481ValfsTer?
NM_033380.2:c.1440_1441insG	NP_203699.1:p.Cys481ValfsTer?
XM_005262070.2:c.1440_1441insG	XP_005262127.1:p.Cys481ValfsTer?
XM_005262072.3:c.1440_1441insG	XP_005262129.1:p.Cys481ValfsTer?
XM_006724616.2:c.1440_1441insG	XP_006724679.1:p.Cys481ValfsTer?
XM_011530849.1:c.1116_1117insG	XP_011529151.1:p.Cys373ValfsTer?
XM_011530850.1:c.1440_1441insG	XP_011529152.1:p.Cys481ValfsTer?
XM_011530849.2:c.1455_1456insG	XP_011529151.2:p.Cys486ValfsTer?
XM_017029259.2:c.1455_1456insG	XP_016884748.1:p.Cys486ValfsTer?
XM_017029260.1:c.1455_1456insG	XP_016884749.1:p.Cys486ValfsTer?
XM_017029261.1:c.1455_1456insG	XP_016884750.1:p.Cys486ValfsTer?
XM_017029262.2:c.1455_1456insG	XP_016884751.1:p.Cys486ValfsTer?
XM_017029263.2:c.-226_-225insG	XP_016884752.1:n.-226_-225insG
NM_000495.5:c.1440_1441insG	NP_000486.1:p.Cys481ValfsTer?
NM_033380.3:c.1440_1441insG MANE Select	NP_203699.1:p.Cys481ValfsTer?