Canonical Allele Identifier: CA2450696598

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621888_108621889delinsTA , CM000685.2:g.108621888_108621889delinsTA	GRCh38
NC_000023.10:g.107865118_107865119delinsTA , CM000685.1:g.107865118_107865119delinsTA	GRCh37
NC_000023.9:g.107751774_107751775delinsTA	NCBI36
NG_011977.1:g.186965_186966delinsTA
NG_011977.2:g.186965_186966delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2763_2764delinsTA MANE Select	ENSP00000331902.7:p.Leu921=
ENST00000361603.7:c.2763_2764delinsTA	ENSP00000354505.2:p.Leu921=
ENST00000328300.10:c.2763_2764delinsTA	ENSP00000331902.6:p.Leu921=
ENST00000361603.6:c.2763_2764delinsTA	ENSP00000354505.2:p.Leu921=
ENST00000483338.1:n.2219_2220delinsTA
NM_000495.4:c.2763_2764delinsTA	NP_000486.1:p.Leu921=
NM_033380.2:c.2763_2764delinsTA	NP_203699.1:p.Leu921=
XM_005262070.2:c.2763_2764delinsTA	XP_005262127.1:p.Leu921=
XM_005262072.3:c.2763_2764delinsTA	XP_005262129.1:p.Leu921=
XM_006724616.2:c.2763_2764delinsTA	XP_006724679.1:p.Leu921=
XM_011530849.1:c.2439_2440delinsTA	XP_011529151.1:p.Leu813=
XM_011530850.1:c.2763_2764delinsTA	XP_011529152.1:p.Leu921=
XM_011530851.1:c.336_337delinsTA	XP_011529153.1:p.Leu112=
XM_011530849.2:c.2778_2779delinsTA	XP_011529151.2:p.Leu926=
XM_017029259.2:c.2778_2779delinsTA	XP_016884748.1:p.Leu926=
XM_017029260.1:c.2778_2779delinsTA	XP_016884749.1:p.Leu926=
XM_017029261.1:c.2778_2779delinsTA	XP_016884750.1:p.Leu926=
XM_017029262.2:c.2778_2779delinsTA	XP_016884751.1:p.Leu926=
XM_017029263.2:c.1098_1099delinsTA	XP_016884752.1:p.Leu366=
NM_000495.5:c.2763_2764delinsTA	NP_000486.1:p.Leu921=
NM_033380.3:c.2763_2764delinsTA MANE Select	NP_203699.1:p.Leu921=