Canonical Allele Identifier: CA2450686357
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108590942_108590943delinsAT , CM000685.2:g.108590942_108590943delinsAT GRCh38
NC_000023.10:g.107834172_107834173delinsAT , CM000685.1:g.107834172_107834173delinsAT GRCh37
NC_000023.9:g.107720828_107720829delinsAT NCBI36
NG_011977.1:g.156019_156020delinsAT
NG_011977.2:g.156019_156020delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.1166-116_1166-115delinsAT MANE Select ENSP00000331902.7:n.1166-116_1166-115deli...
ENST00000361603.7:c.1166-116_1166-115delinsAT ENSP00000354505.2:n.1166-116_1166-115deli...
ENST00000328300.10:c.1166-116_1166-115delinsAT ENSP00000331902.6:n.1166-116_1166-115deli...
ENST00000361603.6:c.1166-116_1166-115delinsAT ENSP00000354505.2:n.1166-116_1166-115deli...
ENST00000483338.1:n.622-116_622-115delinsAT
NM_000495.4:c.1166-116_1166-115delinsAT NP_000486.1:n.1166-116_1166-115delinsAT
NM_033380.2:c.1166-116_1166-115delinsAT NP_203699.1:n.1166-116_1166-115delinsAT
XM_005262070.2:c.1166-116_1166-115delinsAT XP_005262127.1:n.1166-116_1166-115delinsA...
XM_005262072.3:c.1166-116_1166-115delinsAT XP_005262129.1:n.1166-116_1166-115delinsA...
XM_006724616.2:c.1166-116_1166-115delinsAT XP_006724679.1:n.1166-116_1166-115delinsA...
XM_011530849.1:c.842-116_842-115delinsAT XP_011529151.1:n.842-116_842-115delinsAT
XM_011530850.1:c.1166-116_1166-115delinsAT XP_011529152.1:n.1166-116_1166-115delinsA...
XM_011530849.2:c.1181-116_1181-115delinsAT XP_011529151.2:n.1181-116_1181-115delinsA...
XM_017029259.2:c.1181-116_1181-115delinsAT XP_016884748.1:n.1181-116_1181-115delinsA...
XM_017029260.1:c.1181-116_1181-115delinsAT XP_016884749.1:n.1181-116_1181-115delinsA...
XM_017029261.1:c.1181-116_1181-115delinsAT XP_016884750.1:n.1181-116_1181-115delinsA...
XM_017029262.2:c.1181-116_1181-115delinsAT XP_016884751.1:n.1181-116_1181-115delinsA...
XM_017029263.2:c.-544-116_-544-115delinsAT XP_016884752.1:n.-544-116_-544-115delinsA...
NM_000495.5:c.1166-116_1166-115delinsAT NP_000486.1:n.1166-116_1166-115delinsAT
NM_033380.3:c.1166-116_1166-115delinsAT MANE Select NP_203699.1:n.1166-116_1166-115delinsAT