Canonical Allele Identifier: CA2552964910

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108622704del , CM000685.2:g.108622704del	GRCh38
NC_000023.10:g.107865934del , CM000685.1:g.107865934del	GRCh37
NC_000023.9:g.107752590del	NCBI36
NG_011977.1:g.187781del
NG_011977.2:g.187781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2796del MANE Select	ENSP00000331902.7:p.Leu933PhefsTer?
ENST00000361603.7:c.2796del	ENSP00000354505.2:p.Leu933PhefsTer?
ENST00000328300.10:c.2796del	ENSP00000331902.6:p.Leu933PhefsTer?
ENST00000361603.6:c.2796del	ENSP00000354505.2:p.Leu933PhefsTer?
ENST00000483338.1:n.2252del
ENST00000505728.1:c.29del
NM_000495.4:c.2796del	NP_000486.1:p.Leu933PhefsTer?
NM_033380.2:c.2796del	NP_203699.1:p.Leu933PhefsTer?
XM_005262070.2:c.2796del	XP_005262127.1:p.Leu933PhefsTer?
XM_005262072.3:c.2796del	XP_005262129.1:p.Leu933PhefsTer?
XM_006724616.2:c.2796del	XP_006724679.1:p.Leu933PhefsTer?
XM_011530849.1:c.2472del	XP_011529151.1:p.Leu825PhefsTer?
XM_011530850.1:c.2796del	XP_011529152.1:p.Leu933PhefsTer?
XM_011530851.1:c.369del	XP_011529153.1:p.Leu124PhefsTer?
XM_011530849.2:c.2811del	XP_011529151.2:p.Leu938PhefsTer?
XM_017029259.2:c.2811del	XP_016884748.1:p.Leu938PhefsTer?
XM_017029260.1:c.2811del	XP_016884749.1:p.Leu938PhefsTer?
XM_017029261.1:c.2811del	XP_016884750.1:p.Leu938PhefsTer?
XM_017029262.2:c.2811del	XP_016884751.1:p.Leu938PhefsTer?
XM_017029263.2:c.1131del	XP_016884752.1:p.Leu378PhefsTer?
NM_000495.5:c.2796del	NP_000486.1:p.Leu933PhefsTer?
NM_033380.3:c.2796del MANE Select	NP_203699.1:p.Leu933PhefsTer?