Canonical Allele Identifier: CA2450668976
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108539984_108539985delinsAT , CM000685.2:g.108539984_108539985delinsAT GRCh38
NC_000023.10:g.107783214_107783215delinsAT , CM000685.1:g.107783214_107783215delinsAT GRCh37
NC_000023.9:g.107669870_107669871delinsAT NCBI36
NG_011977.1:g.105061_105062delinsAT
NG_011977.2:g.105061_105062delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.141+179_141+180delinsAT MANE Select ENSP00000331902.7:n.141+179_141+180delinsAT
ENST00000361603.7:c.141+179_141+180delinsAT ENSP00000354505.2:n.141+179_141+180delinsAT
ENST00000328300.10:c.141+179_141+180delinsAT ENSP00000331902.6:n.141+179_141+180delinsAT
ENST00000361603.6:c.141+179_141+180delinsAT ENSP00000354505.2:n.141+179_141+180delinsAT
ENST00000470339.1:n.325+179_325+180delinsAT
NM_000495.4:c.141+179_141+180delinsAT NP_000486.1:n.141+179_141+180delinsAT
NM_033380.2:c.141+179_141+180delinsAT NP_203699.1:n.141+179_141+180delinsAT
XM_005262070.2:c.141+179_141+180delinsAT XP_005262127.1:n.141+179_141+180delinsAT
XM_005262072.3:c.141+179_141+180delinsAT XP_005262129.1:n.141+179_141+180delinsAT
XM_006724616.2:c.141+179_141+180delinsAT XP_006724679.1:n.141+179_141+180delinsAT
XM_011530849.1:c.-184+179_-184+180delinsAT XP_011529151.1:n.-184+179_-184+180delinsAT
XM_011530850.1:c.141+179_141+180delinsAT XP_011529152.1:n.141+179_141+180delinsAT
XM_011530849.2:c.156+179_156+180delinsAT XP_011529151.2:n.156+179_156+180delinsAT
XM_017029259.2:c.156+179_156+180delinsAT XP_016884748.1:n.156+179_156+180delinsAT
XM_017029260.1:c.156+179_156+180delinsAT XP_016884749.1:n.156+179_156+180delinsAT
XM_017029261.1:c.156+179_156+180delinsAT XP_016884750.1:n.156+179_156+180delinsAT
XM_017029262.2:c.156+179_156+180delinsAT XP_016884751.1:n.156+179_156+180delinsAT
NM_000495.5:c.141+179_141+180delinsAT NP_000486.1:n.141+179_141+180delinsAT
NM_033380.3:c.141+179_141+180delinsAT MANE Select NP_203699.1:n.141+179_141+180delinsAT