Canonical Allele Identifier: CA2450688174
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108596906_108596909delinsTTGA , CM000685.2:g.108596906_108596909delinsTTGA GRCh38
NC_000023.10:g.107840136_107840139delinsTTGA , CM000685.1:g.107840136_107840139delinsTTGA GRCh37
NC_000023.9:g.107726792_107726795delinsTTGA NCBI36
NG_011977.1:g.161983_161986delinsTTGA
NG_011977.2:g.161983_161986delinsTTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1517-92_1517-89delinsTTGA MANE Select ENSP00000331902.7:n.1517-92_1517-89delinsTTGA
ENST00000361603.7:c.1517-92_1517-89delinsTTGA ENSP00000354505.2:n.1517-92_1517-89delinsTTGA
ENST00000328300.10:c.1517-92_1517-89delinsTTGA ENSP00000331902.6:n.1517-92_1517-89delinsTTGA
ENST00000361603.6:c.1517-92_1517-89delinsTTGA ENSP00000354505.2:n.1517-92_1517-89delinsTTGA
ENST00000483338.1:n.973-92_973-89delinsTTGA
NM_000495.4:c.1517-92_1517-89delinsTTGA NP_000486.1:n.1517-92_1517-89delinsTTGA
NM_033380.2:c.1517-92_1517-89delinsTTGA NP_203699.1:n.1517-92_1517-89delinsTTGA
XM_005262070.2:c.1517-92_1517-89delinsTTGA XP_005262127.1:n.1517-92_1517-89delinsTTGA
XM_005262072.3:c.1517-92_1517-89delinsTTGA XP_005262129.1:n.1517-92_1517-89delinsTTGA
XM_006724616.2:c.1517-92_1517-89delinsTTGA XP_006724679.1:n.1517-92_1517-89delinsTTGA
XM_011530849.1:c.1193-92_1193-89delinsTTGA XP_011529151.1:n.1193-92_1193-89delinsTTGA
XM_011530850.1:c.1517-92_1517-89delinsTTGA XP_011529152.1:n.1517-92_1517-89delinsTTGA
XM_011530849.2:c.1532-92_1532-89delinsTTGA XP_011529151.2:n.1532-92_1532-89delinsTTGA
XM_017029259.2:c.1532-92_1532-89delinsTTGA XP_016884748.1:n.1532-92_1532-89delinsTTGA
XM_017029260.1:c.1532-92_1532-89delinsTTGA XP_016884749.1:n.1532-92_1532-89delinsTTGA
XM_017029261.1:c.1532-92_1532-89delinsTTGA XP_016884750.1:n.1532-92_1532-89delinsTTGA
XM_017029262.2:c.1532-92_1532-89delinsTTGA XP_016884751.1:n.1532-92_1532-89delinsTTGA
XM_017029263.2:c.-149-92_-149-89delinsTTGA XP_016884752.1:n.-149-92_-149-89delinsTTGA
NM_000495.5:c.1517-92_1517-89delinsTTGA NP_000486.1:n.1517-92_1517-89delinsTTGA
NM_033380.3:c.1517-92_1517-89delinsTTGA MANE Select NP_203699.1:n.1517-92_1517-89delinsTTGA