Canonical Allele Identifier: CA2450689935
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108601888_108601889delinsAC , CM000685.2:g.108601888_108601889delinsAC GRCh38
NC_000023.10:g.107845118_107845119delinsAC , CM000685.1:g.107845118_107845119delinsAC GRCh37
NC_000023.9:g.107731774_107731775delinsAC NCBI36
NG_011977.1:g.166965_166966delinsAC
NG_011977.2:g.166965_166966delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2045_2046delinsAC MANE Select ENSP00000331902.7:p.Asp682=
ENST00000361603.7:c.2045_2046delinsAC ENSP00000354505.2:p.Asp682=
ENST00000328300.10:c.2045_2046delinsAC ENSP00000331902.6:p.Asp682=
ENST00000361603.6:c.2045_2046delinsAC ENSP00000354505.2:p.Asp682=
ENST00000483338.1:n.1501_1502delinsAC
NM_000495.4:c.2045_2046delinsAC NP_000486.1:p.Asp682=
NM_033380.2:c.2045_2046delinsAC NP_203699.1:p.Asp682=
XM_005262070.2:c.2045_2046delinsAC XP_005262127.1:p.Asp682=
XM_005262072.3:c.2045_2046delinsAC XP_005262129.1:p.Asp682=
XM_006724616.2:c.2045_2046delinsAC XP_006724679.1:p.Asp682=
XM_011530849.1:c.1721_1722delinsAC XP_011529151.1:p.Asp574=
XM_011530850.1:c.2045_2046delinsAC XP_011529152.1:p.Asp682=
XM_011530849.2:c.2060_2061delinsAC XP_011529151.2:p.Asp687=
XM_017029259.2:c.2060_2061delinsAC XP_016884748.1:p.Asp687=
XM_017029260.1:c.2060_2061delinsAC XP_016884749.1:p.Asp687=
XM_017029261.1:c.2060_2061delinsAC XP_016884750.1:p.Asp687=
XM_017029262.2:c.2060_2061delinsAC XP_016884751.1:p.Asp687=
XM_017029263.2:c.380_381delinsAC XP_016884752.1:p.Asp127=
NM_000495.5:c.2045_2046delinsAC NP_000486.1:p.Asp682=
NM_033380.3:c.2045_2046delinsAC MANE Select NP_203699.1:p.Asp682=