Canonical Allele Identifier: CA2573332558

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108622743_108622744del , CM000685.2:g.108622743_108622744del	GRCh38
NC_000023.10:g.107865973_107865974del , CM000685.1:g.107865973_107865974del	GRCh37
NC_000023.9:g.107752629_107752630del	NCBI36
NG_011977.1:g.187820_187821del
NG_011977.2:g.187820_187821del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2835_2836del MANE Select	ENSP00000331902.7:p.Glu945AspfsTer?
ENST00000361603.7:c.2835_2836del	ENSP00000354505.2:p.Glu945AspfsTer?
ENST00000328300.10:c.2835_2836del	ENSP00000331902.6:p.Glu945AspfsTer?
ENST00000361603.6:c.2835_2836del	ENSP00000354505.2:p.Glu945AspfsTer?
ENST00000483338.1:n.2291_2292del
ENST00000505728.1:c.68_69del
NM_000495.4:c.2835_2836del	NP_000486.1:p.Glu945AspfsTer?
NM_033380.2:c.2835_2836del	NP_203699.1:p.Glu945AspfsTer?
XM_005262070.2:c.2835_2836del	XP_005262127.1:p.Glu945AspfsTer?
XM_005262072.3:c.2835_2836del	XP_005262129.1:p.Glu945AspfsTer?
XM_006724616.2:c.2835_2836del	XP_006724679.1:p.Glu945AspfsTer?
XM_011530849.1:c.2511_2512del	XP_011529151.1:p.Glu837AspfsTer?
XM_011530850.1:c.2835_2836del	XP_011529152.1:p.Glu945AspfsTer?
XM_011530851.1:c.408_409del	XP_011529153.1:p.Glu136AspfsTer?
XM_011530849.2:c.2850_2851del	XP_011529151.2:p.Glu950AspfsTer?
XM_017029259.2:c.2850_2851del	XP_016884748.1:p.Glu950AspfsTer?
XM_017029260.1:c.2850_2851del	XP_016884749.1:p.Glu950AspfsTer?
XM_017029261.1:c.2850_2851del	XP_016884750.1:p.Glu950AspfsTer?
XM_017029262.2:c.2850_2851del	XP_016884751.1:p.Glu950AspfsTer?
XM_017029263.2:c.1170_1171del	XP_016884752.1:p.Glu390AspfsTer?
NM_000495.5:c.2835_2836del	NP_000486.1:p.Glu945AspfsTer?
NM_033380.3:c.2835_2836del MANE Select	NP_203699.1:p.Glu945AspfsTer?