Canonical Allele Identifier: CA2450696591

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621871_108621883delinsAGTGGTGTACCTG , CM000685.2:g.108621871_108621883delinsAGTGGTGTACCTG	GRCh38
NC_000023.10:g.107865101_107865113delinsAGTGGTGTACCTG , CM000685.1:g.107865101_107865113delinsAGTGGTGTACCTG	GRCh37
NC_000023.9:g.107751757_107751769delinsAGTGGTGTACCTG	NCBI36
NG_011977.1:g.186948_186960delinsAGTGGTGTACCTG
NG_011977.2:g.186948_186960delinsAGTGGTGTACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2746_2758delinsAGTGGTGTACCTG MANE Select	ENSP00000331902.7:p.Ser916=
ENST00000361603.7:c.2746_2758delinsAGTGGTGTACCTG	ENSP00000354505.2:p.Ser916=
ENST00000328300.10:c.2746_2758delinsAGTGGTGTACCTG	ENSP00000331902.6:p.Ser916=
ENST00000361603.6:c.2746_2758delinsAGTGGTGTACCTG	ENSP00000354505.2:p.Ser916=
ENST00000483338.1:n.2202_2214delinsAGTGGTGTACCTG
NM_000495.4:c.2746_2758delinsAGTGGTGTACCTG	NP_000486.1:p.Ser916=
NM_033380.2:c.2746_2758delinsAGTGGTGTACCTG	NP_203699.1:p.Ser916=
XM_005262070.2:c.2746_2758delinsAGTGGTGTACCTG	XP_005262127.1:p.Ser916=
XM_005262072.3:c.2746_2758delinsAGTGGTGTACCTG	XP_005262129.1:p.Ser916=
XM_006724616.2:c.2746_2758delinsAGTGGTGTACCTG	XP_006724679.1:p.Ser916=
XM_011530849.1:c.2422_2434delinsAGTGGTGTACCTG	XP_011529151.1:p.Ser808=
XM_011530850.1:c.2746_2758delinsAGTGGTGTACCTG	XP_011529152.1:p.Ser916=
XM_011530851.1:c.319_331delinsAGTGGTGTACCTG	XP_011529153.1:p.Ser107=
XM_011530849.2:c.2761_2773delinsAGTGGTGTACCTG	XP_011529151.2:p.Ser921=
XM_017029259.2:c.2761_2773delinsAGTGGTGTACCTG	XP_016884748.1:p.Ser921=
XM_017029260.1:c.2761_2773delinsAGTGGTGTACCTG	XP_016884749.1:p.Ser921=
XM_017029261.1:c.2761_2773delinsAGTGGTGTACCTG	XP_016884750.1:p.Ser921=
XM_017029262.2:c.2761_2773delinsAGTGGTGTACCTG	XP_016884751.1:p.Ser921=
XM_017029263.2:c.1081_1093delinsAGTGGTGTACCTG	XP_016884752.1:p.Ser361=
NM_000495.5:c.2746_2758delinsAGTGGTGTACCTG	NP_000486.1:p.Ser916=
NM_033380.3:c.2746_2758delinsAGTGGTGTACCTG MANE Select	NP_203699.1:p.Ser916=