Canonical Allele Identifier: CA2450718779

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686104_108686111delinsAGACCCAG , CM000685.2:g.108686104_108686111delinsAGACCCAG	GRCh38
NC_000023.10:g.107929334_107929341delinsAGACCCAG , CM000685.1:g.107929334_107929341delinsAGACCCAG	GRCh37
NC_000023.9:g.107815990_107815997delinsAGACCCAG	NCBI36
NG_011977.1:g.251181_251188delinsAGACCCAG
NG_011977.2:g.251181_251188delinsAGACCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4290_4297delinsAGACCCAG MANE Select	ENSP00000331902.7:p.Gly1430=
ENST00000361603.7:c.4272_4279delinsAGACCCAG	ENSP00000354505.2:p.Gly1424=
ENST00000510690.2:n.784_791delinsAGACCCAG
ENST00000328300.10:c.4290_4297delinsAGACCCAG	ENSP00000331902.6:p.Gly1430=
ENST00000361603.6:c.4272_4279delinsAGACCCAG	ENSP00000354505.2:p.Gly1424=
ENST00000489230.1:n.693_700delinsAGACCCAG
ENST00000515658.1:c.86_93delinsAGACCCAG
NM_000495.4:c.4272_4279delinsAGACCCAG	NP_000486.1:p.Gly1424=
NM_033380.2:c.4290_4297delinsAGACCCAG	NP_203699.1:p.Gly1430=
XM_005262070.2:c.4281_4288delinsAGACCCAG	XP_005262127.1:p.Gly1427=
XM_006724616.2:c.4290_4297delinsAGACCCAG	XP_006724679.1:p.Gly1430=
XM_011530849.1:c.3966_3973delinsAGACCCAG	XP_011529151.1:p.Gly1322=
XM_011530851.1:c.1863_1870delinsAGACCCAG	XP_011529153.1:p.Gly621=
XM_011530849.2:c.4305_4312delinsAGACCCAG	XP_011529151.2:p.Gly1435=
XM_017029259.2:c.4296_4303delinsAGACCCAG	XP_016884748.1:p.Gly1432=
XM_017029260.1:c.4287_4294delinsAGACCCAG	XP_016884749.1:p.Gly1429=
XM_017029263.2:c.2625_2632delinsAGACCCAG	XP_016884752.1:p.Gly875=
NM_000495.5:c.4272_4279delinsAGACCCAG	NP_000486.1:p.Gly1424=
NM_033380.3:c.4290_4297delinsAGACCCAG MANE Select	NP_203699.1:p.Gly1430=