Canonical Allele Identifier: CA2450689730
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108601400_108601401delinsAG , CM000685.2:g.108601400_108601401delinsAG GRCh38
NC_000023.10:g.107844630_107844631delinsAG , CM000685.1:g.107844630_107844631delinsAG GRCh37
NC_000023.9:g.107731286_107731287delinsAG NCBI36
NG_011977.1:g.166477_166478delinsAG
NG_011977.2:g.166477_166478delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.1956_1957delinsAG MANE Select ENSP00000331902.7:p.Lys652=
ENST00000361603.7:c.1956_1957delinsAG ENSP00000354505.2:p.Lys652=
ENST00000328300.10:c.1956_1957delinsAG ENSP00000331902.6:p.Lys652=
ENST00000361603.6:c.1956_1957delinsAG ENSP00000354505.2:p.Lys652=
ENST00000483338.1:n.1412_1413delinsAG
NM_000495.4:c.1956_1957delinsAG NP_000486.1:p.Lys652=
NM_033380.2:c.1956_1957delinsAG NP_203699.1:p.Lys652=
XM_005262070.2:c.1956_1957delinsAG XP_005262127.1:p.Lys652=
XM_005262072.3:c.1956_1957delinsAG XP_005262129.1:p.Lys652=
XM_006724616.2:c.1956_1957delinsAG XP_006724679.1:p.Lys652=
XM_011530849.1:c.1632_1633delinsAG XP_011529151.1:p.Lys544=
XM_011530850.1:c.1956_1957delinsAG XP_011529152.1:p.Lys652=
XM_011530849.2:c.1971_1972delinsAG XP_011529151.2:p.Lys657=
XM_017029259.2:c.1971_1972delinsAG XP_016884748.1:p.Lys657=
XM_017029260.1:c.1971_1972delinsAG XP_016884749.1:p.Lys657=
XM_017029261.1:c.1971_1972delinsAG XP_016884750.1:p.Lys657=
XM_017029262.2:c.1971_1972delinsAG XP_016884751.1:p.Lys657=
XM_017029263.2:c.291_292delinsAG XP_016884752.1:p.Lys97=
NM_000495.5:c.1956_1957delinsAG NP_000486.1:p.Lys652=
NM_033380.3:c.1956_1957delinsAG MANE Select NP_203699.1:p.Lys652=