Canonical Allele Identifier: CA258940
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886393

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108668424_108668475del , CM000685.2:g.108668424_108668475del GRCh38
NC_000023.10:g.107911654_107911705del , CM000685.1:g.107911654_107911705del GRCh37
NC_000023.9:g.107798310_107798361del NCBI36
NG_011977.1:g.233501_233552del
NG_011977.2:g.233501_233552del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3710_3761del MANE Select ENSP00000331902.7:p.Pro1237LeufsTer?
ENST00000361603.7:c.3710_3761del ENSP00000354505.2:p.Pro1237LeufsTer?
ENST00000328300.10:c.3710_3761del ENSP00000331902.6:p.Pro1237LeufsTer?
ENST00000361603.6:c.3710_3761del ENSP00000354505.2:p.Pro1237LeufsTer?
NM_000495.4:c.3710_3761del NP_000486.1:p.Pro1237LeufsTer?
NM_033380.2:c.3710_3761del NP_203699.1:p.Pro1237LeufsTer?
XM_005262070.2:c.3710_3761del XP_005262127.1:p.Pro1237LeufsTer?
XM_006724616.2:c.3710_3761del XP_006724679.1:p.Pro1237LeufsTer?
XM_011530849.1:c.3386_3437del XP_011529151.1:p.Pro1129LeufsTer?
XM_011530850.1:c.3710_3761del XP_011529152.1:p.Pro1237LeufsTer?
XM_011530851.1:c.1283_1334del XP_011529153.1:p.Pro428LeufsTer?
XM_011530849.2:c.3725_3776del XP_011529151.2:p.Pro1242LeufsTer?
XM_017029259.2:c.3725_3776del XP_016884748.1:p.Pro1242LeufsTer?
XM_017029260.1:c.3725_3776del XP_016884749.1:p.Pro1242LeufsTer?
XM_017029261.1:c.3725_3776del XP_016884750.1:p.Pro1242LeufsTer?
XM_017029262.2:c.3725_3776del XP_016884751.1:p.Pro1242LeufsTer?
XM_017029263.2:c.2045_2096del XP_016884752.1:p.Pro682LeufsTer?
NM_000495.5:c.3710_3761del NP_000486.1:p.Pro1237LeufsTer?
NM_033380.3:c.3710_3761del MANE Select NP_203699.1:p.Pro1237LeufsTer?