Canonical Allele Identifier: CA2450720832
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108692750_108692764delinsACGGCTGGCAGCTGC , CM000685.2:g.108692750_108692764delinsACGGCTGGCAGCTGC GRCh38
NC_000023.10:g.107935980_107935994delinsACGGCTGGCAGCTGC , CM000685.1:g.107935980_107935994delinsACGGCTGGCAGCTGC GRCh37
NC_000023.9:g.107822636_107822650delinsACGGCTGGCAGCTGC NCBI36
NG_011977.1:g.257827_257841delinsACGGCTGGCAGCTGC
NG_011977.2:g.257827_257841delinsACGGCTGGCAGCTGC

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4531_4545delinsACGGCTGGCAGCTGC MANE Select ENSP00000331902.7:p.Thr1511=
ENST00000361603.7:c.4513_4527delinsACGGCTGGCAGCTGC ENSP00000354505.2:p.Thr1505=
ENST00000510690.2:n.1025_1039delinsACGGCTGGCAGCTGC
ENST00000328300.10:c.4531_4545delinsACGGCTGGCAGCTGC ENSP00000331902.6:p.Thr1511=
ENST00000361603.6:c.4513_4527delinsACGGCTGGCAGCTGC ENSP00000354505.2:p.Thr1505=
ENST00000515658.1:c.325-3547_325-3533delinsACGGCTGGCAGCTGC
NM_000495.4:c.4513_4527delinsACGGCTGGCAGCTGC NP_000486.1:p.Thr1505=
NM_033380.2:c.4531_4545delinsACGGCTGGCAGCTGC NP_203699.1:p.Thr1511=
XM_005262070.2:c.4522_4536delinsACGGCTGGCAGCTGC XP_005262127.1:p.Thr1508=
XM_006724616.2:c.4531_4545delinsACGGCTGGCAGCTGC XP_006724679.1:p.Thr1511=
XM_011530849.1:c.4207_4221delinsACGGCTGGCAGCTGC XP_011529151.1:p.Thr1403=
XM_011530851.1:c.2104_2118delinsACGGCTGGCAGCTGC XP_011529153.1:p.Thr702=
XM_011530849.2:c.4546_4560delinsACGGCTGGCAGCTGC XP_011529151.2:p.Thr1516=
XM_017029259.2:c.4537_4551delinsACGGCTGGCAGCTGC XP_016884748.1:p.Thr1513=
XM_017029260.1:c.4528_4542delinsACGGCTGGCAGCTGC XP_016884749.1:p.Thr1510=
XM_017029263.2:c.2866_2880delinsACGGCTGGCAGCTGC XP_016884752.1:p.Thr956=
NM_000495.5:c.4513_4527delinsACGGCTGGCAGCTGC NP_000486.1:p.Thr1505=
NM_033380.3:c.4531_4545delinsACGGCTGGCAGCTGC MANE Select NP_203699.1:p.Thr1511=