Canonical Allele Identifier: CA2740097970

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 3066320
• ClinVar RCV Id: RCV003991324

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680930_108680931delinsAT , CM000685.2:g.108680930_108680931delinsAT	GRCh38
NC_000023.10:g.107924160_107924161delinsAT , CM000685.1:g.107924160_107924161delinsAT	GRCh37
NC_000023.9:g.107810816_107810817delinsAT	NCBI36
NG_011977.1:g.246007_246008delinsAT
NG_011977.2:g.246007_246008delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4061_4062delinsAT MANE Select	ENSP00000331902.7:p.Gly1354Asp
ENST00000361603.7:c.4043_4044delinsAT	ENSP00000354505.2:p.Gly1348Asp
ENST00000510690.2:n.555_556delinsAT
ENST00000328300.10:c.4061_4062delinsAT	ENSP00000331902.6:p.Gly1354Asp
ENST00000361603.6:c.4043_4044delinsAT	ENSP00000354505.2:p.Gly1348Asp
ENST00000489230.1:n.464_465delinsAT
NM_000495.4:c.4043_4044delinsAT	NP_000486.1:p.Gly1348Asp
NM_033380.2:c.4061_4062delinsAT	NP_203699.1:p.Gly1354Asp
XM_005262070.2:c.4052_4053delinsAT	XP_005262127.1:p.Gly1351Asp
XM_006724616.2:c.4061_4062delinsAT	XP_006724679.1:p.Gly1354Asp
XM_011530849.1:c.3737_3738delinsAT	XP_011529151.1:p.Gly1246Asp
XM_011530851.1:c.1634_1635delinsAT	XP_011529153.1:p.Gly545Asp
XM_011530849.2:c.4076_4077delinsAT	XP_011529151.2:p.Gly1359Asp
XM_017029259.2:c.4067_4068delinsAT	XP_016884748.1:p.Gly1356Asp
XM_017029260.1:c.4058_4059delinsAT	XP_016884749.1:p.Gly1353Asp
XM_017029263.2:c.2396_2397delinsAT	XP_016884752.1:p.Gly799Asp
NM_000495.5:c.4043_4044delinsAT	NP_000486.1:p.Gly1348Asp
NM_033380.3:c.4061_4062delinsAT MANE Select	NP_203699.1:p.Gly1354Asp