Canonical Allele Identifier: CA334050113
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886364
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108621872_108621884delinsAT , CM000685.2:g.108621872_108621884delinsAT GRCh38
NC_000023.10:g.107865102_107865114delinsAT , CM000685.1:g.107865102_107865114delinsAT GRCh37
NC_000023.9:g.107751758_107751770delinsAT NCBI36
NG_011977.1:g.186949_186961delinsAT
NG_011977.2:g.186949_186961delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2747_2759delinsAT MANE Select ENSP00000331902.7:p.Ser916AsnfsTer3
ENST00000361603.7:c.2747_2759delinsAT ENSP00000354505.2:p.Ser916AsnfsTer3
ENST00000328300.10:c.2747_2759delinsAT ENSP00000331902.6:p.Ser916AsnfsTer3
ENST00000361603.6:c.2747_2759delinsAT ENSP00000354505.2:p.Ser916AsnfsTer3
ENST00000483338.1:n.2203_2215delinsAT
NM_000495.4:c.2747_2759delinsAT NP_000486.1:p.Ser916AsnfsTer3
NM_033380.2:c.2747_2759delinsAT NP_203699.1:p.Ser916AsnfsTer3
XM_005262070.2:c.2747_2759delinsAT XP_005262127.1:p.Ser916AsnfsTer3
XM_005262072.3:c.2747_2759delinsAT XP_005262129.1:p.Ser916AsnfsTer3
XM_006724616.2:c.2747_2759delinsAT XP_006724679.1:p.Ser916AsnfsTer3
XM_011530849.1:c.2423_2435delinsAT XP_011529151.1:p.Ser808AsnfsTer3
XM_011530850.1:c.2747_2759delinsAT XP_011529152.1:p.Ser916AsnfsTer3
XM_011530851.1:c.320_332delinsAT XP_011529153.1:p.Ser107AsnfsTer3
XM_011530849.2:c.2762_2774delinsAT XP_011529151.2:p.Ser921AsnfsTer3
XM_017029259.2:c.2762_2774delinsAT XP_016884748.1:p.Ser921AsnfsTer3
XM_017029260.1:c.2762_2774delinsAT XP_016884749.1:p.Ser921AsnfsTer3
XM_017029261.1:c.2762_2774delinsAT XP_016884750.1:p.Ser921AsnfsTer3
XM_017029262.2:c.2762_2774delinsAT XP_016884751.1:p.Ser921AsnfsTer3
XM_017029263.2:c.1082_1094delinsAT XP_016884752.1:p.Ser361AsnfsTer3
NM_000495.5:c.2747_2759delinsAT NP_000486.1:p.Ser916AsnfsTer3
NM_033380.3:c.2747_2759delinsAT MANE Select NP_203699.1:p.Ser916AsnfsTer3
Search 100 bp 5'
Search 100 bp 3'