Canonical Allele Identifier: CA2450717222

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681788_108681796delinsACAGAGTAT , CM000685.2:g.108681788_108681796delinsACAGAGTAT	GRCh38
NC_000023.10:g.107925018_107925026delinsACAGAGTAT , CM000685.1:g.107925018_107925026delinsACAGAGTAT	GRCh37
NC_000023.9:g.107811674_107811682delinsACAGAGTAT	NCBI36
NG_011977.1:g.246865_246873delinsACAGAGTAT
NG_011977.2:g.246865_246873delinsACAGAGTAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4116_4124delinsACAGAGTAT MANE Select	ENSP00000331902.7:p.Gly1372=
ENST00000361603.7:c.4098_4106delinsACAGAGTAT	ENSP00000354505.2:p.Gly1366=
ENST00000510690.2:n.610_618delinsACAGAGTAT
ENST00000328300.10:c.4116_4124delinsACAGAGTAT	ENSP00000331902.6:p.Gly1372=
ENST00000361603.6:c.4098_4106delinsACAGAGTAT	ENSP00000354505.2:p.Gly1366=
ENST00000489230.1:n.519_527delinsACAGAGTAT
NM_000495.4:c.4098_4106delinsACAGAGTAT	NP_000486.1:p.Gly1366=
NM_033380.2:c.4116_4124delinsACAGAGTAT	NP_203699.1:p.Gly1372=
XM_005262070.2:c.4107_4115delinsACAGAGTAT	XP_005262127.1:p.Gly1369=
XM_006724616.2:c.4116_4124delinsACAGAGTAT	XP_006724679.1:p.Gly1372=
XM_011530849.1:c.3792_3800delinsACAGAGTAT	XP_011529151.1:p.Gly1264=
XM_011530851.1:c.1689_1697delinsACAGAGTAT	XP_011529153.1:p.Gly563=
XM_011530849.2:c.4131_4139delinsACAGAGTAT	XP_011529151.2:p.Gly1377=
XM_017029259.2:c.4122_4130delinsACAGAGTAT	XP_016884748.1:p.Gly1374=
XM_017029260.1:c.4113_4121delinsACAGAGTAT	XP_016884749.1:p.Gly1371=
XM_017029263.2:c.2451_2459delinsACAGAGTAT	XP_016884752.1:p.Gly817=
NM_000495.5:c.4098_4106delinsACAGAGTAT	NP_000486.1:p.Gly1366=
NM_033380.3:c.4116_4124delinsACAGAGTAT MANE Select	NP_203699.1:p.Gly1372=