Canonical Allele Identifier: CA2450689679
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108601219_108601223delinsCTTCT , CM000685.2:g.108601219_108601223delinsCTTCT GRCh38
NC_000023.10:g.107844449_107844453delinsCTTCT , CM000685.1:g.107844449_107844453delinsCTTCT GRCh37
NC_000023.9:g.107731105_107731109delinsCTTCT NCBI36
NG_011977.1:g.166296_166300delinsCTTCT
NG_011977.2:g.166296_166300delinsCTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1949-174_1949-170delinsCTTCT MANE Select ENSP00000331902.7:n.1949-174_1949-170delinsCTTCT
ENST00000361603.7:c.1949-174_1949-170delinsCTTCT ENSP00000354505.2:n.1949-174_1949-170delinsCTTCT
ENST00000328300.10:c.1949-174_1949-170delinsCTTCT ENSP00000331902.6:n.1949-174_1949-170delinsCTTCT
ENST00000361603.6:c.1949-174_1949-170delinsCTTCT ENSP00000354505.2:n.1949-174_1949-170delinsCTTCT
ENST00000483338.1:n.1405-174_1405-170delinsCTTCT
NM_000495.4:c.1949-174_1949-170delinsCTTCT NP_000486.1:n.1949-174_1949-170delinsCTTCT
NM_033380.2:c.1949-174_1949-170delinsCTTCT NP_203699.1:n.1949-174_1949-170delinsCTTCT
XM_005262070.2:c.1949-174_1949-170delinsCTTCT XP_005262127.1:n.1949-174_1949-170delinsCTTCT
XM_005262072.3:c.1949-174_1949-170delinsCTTCT XP_005262129.1:n.1949-174_1949-170delinsCTTCT
XM_006724616.2:c.1949-174_1949-170delinsCTTCT XP_006724679.1:n.1949-174_1949-170delinsCTTCT
XM_011530849.1:c.1625-174_1625-170delinsCTTCT XP_011529151.1:n.1625-174_1625-170delinsCTTCT
XM_011530850.1:c.1949-174_1949-170delinsCTTCT XP_011529152.1:n.1949-174_1949-170delinsCTTCT
XM_011530849.2:c.1964-174_1964-170delinsCTTCT XP_011529151.2:n.1964-174_1964-170delinsCTTCT
XM_017029259.2:c.1964-174_1964-170delinsCTTCT XP_016884748.1:n.1964-174_1964-170delinsCTTCT
XM_017029260.1:c.1964-174_1964-170delinsCTTCT XP_016884749.1:n.1964-174_1964-170delinsCTTCT
XM_017029261.1:c.1964-174_1964-170delinsCTTCT XP_016884750.1:n.1964-174_1964-170delinsCTTCT
XM_017029262.2:c.1964-174_1964-170delinsCTTCT XP_016884751.1:n.1964-174_1964-170delinsCTTCT
XM_017029263.2:c.284-174_284-170delinsCTTCT XP_016884752.1:n.284-174_284-170delinsCTTCT
NM_000495.5:c.1949-174_1949-170delinsCTTCT NP_000486.1:n.1949-174_1949-170delinsCTTCT
NM_033380.3:c.1949-174_1949-170delinsCTTCT MANE Select NP_203699.1:n.1949-174_1949-170delinsCTTCT