Canonical Allele Identifier: CA2450668852
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108539630_108539631delinsAT , CM000685.2:g.108539630_108539631delinsAT GRCh38
NC_000023.10:g.107782860_107782861delinsAT , CM000685.1:g.107782860_107782861delinsAT GRCh37
NC_000023.9:g.107669516_107669517delinsAT NCBI36
NG_011977.1:g.104707_104708delinsAT
NG_011977.2:g.104707_104708delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.82-116_82-115delinsAT MANE Select ENSP00000331902.7:n.82-116_82-115delinsAT
ENST00000361603.7:c.82-116_82-115delinsAT ENSP00000354505.2:n.82-116_82-115delinsAT
ENST00000328300.10:c.82-116_82-115delinsAT ENSP00000331902.6:n.82-116_82-115delinsAT
ENST00000361603.6:c.82-116_82-115delinsAT ENSP00000354505.2:n.82-116_82-115delinsAT
ENST00000470339.1:n.266-116_266-115delinsAT
NM_000495.4:c.82-116_82-115delinsAT NP_000486.1:n.82-116_82-115delinsAT
NM_033380.2:c.82-116_82-115delinsAT NP_203699.1:n.82-116_82-115delinsAT
XM_005262070.2:c.82-116_82-115delinsAT XP_005262127.1:n.82-116_82-115delinsAT
XM_005262072.3:c.82-116_82-115delinsAT XP_005262129.1:n.82-116_82-115delinsAT
XM_006724616.2:c.82-116_82-115delinsAT XP_006724679.1:n.82-116_82-115delinsAT
XM_011530849.1:c.-243-116_-243-115delinsAT XP_011529151.1:n.-243-116_-243-115delinsAT
XM_011530850.1:c.82-116_82-115delinsAT XP_011529152.1:n.82-116_82-115delinsAT
XM_011530849.2:c.97-116_97-115delinsAT XP_011529151.2:n.97-116_97-115delinsAT
XM_017029259.2:c.97-116_97-115delinsAT XP_016884748.1:n.97-116_97-115delinsAT
XM_017029260.1:c.97-116_97-115delinsAT XP_016884749.1:n.97-116_97-115delinsAT
XM_017029261.1:c.97-116_97-115delinsAT XP_016884750.1:n.97-116_97-115delinsAT
XM_017029262.2:c.97-116_97-115delinsAT XP_016884751.1:n.97-116_97-115delinsAT
NM_000495.5:c.82-116_82-115delinsAT NP_000486.1:n.82-116_82-115delinsAT
NM_033380.3:c.82-116_82-115delinsAT MANE Select NP_203699.1:n.82-116_82-115delinsAT