Canonical Allele Identifier: CA2580100211

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2445904
• ClinVar RCV Id: RCV003155823

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681769_108681770delinsTC , CM000685.2:g.108681769_108681770delinsTC	GRCh38
NC_000023.10:g.107924999_107925000delinsTC , CM000685.1:g.107924999_107925000delinsTC	GRCh37
NC_000023.9:g.107811655_107811656delinsTC	NCBI36
NG_011977.1:g.246846_246847delinsTC
NG_011977.2:g.246846_246847delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4097_4098delinsTC MANE Select	ENSP00000331902.7:p.Gly1366Val
ENST00000361603.7:c.4079_4080delinsTC	ENSP00000354505.2:p.Gly1360Val
ENST00000510690.2:n.591_592delinsTC
ENST00000328300.10:c.4097_4098delinsTC	ENSP00000331902.6:p.Gly1366Val
ENST00000361603.6:c.4079_4080delinsTC	ENSP00000354505.2:p.Gly1360Val
ENST00000489230.1:n.500_501delinsTC
NM_000495.4:c.4079_4080delinsTC	NP_000486.1:p.Gly1360Val
NM_033380.2:c.4097_4098delinsTC	NP_203699.1:p.Gly1366Val
XM_005262070.2:c.4088_4089delinsTC	XP_005262127.1:p.Gly1363Val
XM_006724616.2:c.4097_4098delinsTC	XP_006724679.1:p.Gly1366Val
XM_011530849.1:c.3773_3774delinsTC	XP_011529151.1:p.Gly1258Val
XM_011530851.1:c.1670_1671delinsTC	XP_011529153.1:p.Gly557Val
XM_011530849.2:c.4112_4113delinsTC	XP_011529151.2:p.Gly1371Val
XM_017029259.2:c.4103_4104delinsTC	XP_016884748.1:p.Gly1368Val
XM_017029260.1:c.4094_4095delinsTC	XP_016884749.1:p.Gly1365Val
XM_017029263.2:c.2432_2433delinsTC	XP_016884752.1:p.Gly811Val
NM_000495.5:c.4079_4080delinsTC	NP_000486.1:p.Gly1360Val
NM_033380.3:c.4097_4098delinsTC MANE Select	NP_203699.1:p.Gly1366Val