Canonical Allele Identifier: CA2450721675
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695107_108695108delinsCT , CM000685.2:g.108695107_108695108delinsCT GRCh38
NC_000023.10:g.107938337_107938338delinsCT , CM000685.1:g.107938337_107938338delinsCT GRCh37
NC_000023.9:g.107824993_107824994delinsCT NCBI36
NG_011977.1:g.260184_260185delinsCT
NG_011977.2:g.260184_260185delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4822-160_4822-159delinsCT MANE Select ENSP00000331902.7:n.4822-160_4822-159delinsCT
ENST00000361603.7:c.4804-160_4804-159delinsCT ENSP00000354505.2:n.4804-160_4804-159delinsCT
ENST00000510690.2:n.1316-160_1316-159delinsCT
ENST00000644079.1:n.1493_1494delinsCT
ENST00000328300.10:c.4822-160_4822-159delinsCT ENSP00000331902.6:n.4822-160_4822-159delinsCT
ENST00000361603.6:c.4804-160_4804-159delinsCT ENSP00000354505.2:n.4804-160_4804-159delinsCT
ENST00000504541.1:c.219+186_219+187delinsCT ENSP00000424845.1:n.219+186_219+187delinsCT
ENST00000515658.1:c.325-1190_325-1189delinsCT
NM_000495.4:c.4804-160_4804-159delinsCT NP_000486.1:n.4804-160_4804-159delinsCT
NM_033380.2:c.4822-160_4822-159delinsCT NP_203699.1:n.4822-160_4822-159delinsCT
XM_005262070.2:c.4813-160_4813-159delinsCT XP_005262127.1:n.4813-160_4813-159delinsCT
XM_006724616.2:c.4822-160_4822-159delinsCT XP_006724679.1:n.4822-160_4822-159delinsCT
XM_011530849.1:c.4498-160_4498-159delinsCT XP_011529151.1:n.4498-160_4498-159delinsCT
XM_011530851.1:c.2395-160_2395-159delinsCT XP_011529153.1:n.2395-160_2395-159delinsCT
XM_011530849.2:c.4837-160_4837-159delinsCT XP_011529151.2:n.4837-160_4837-159delinsCT
XM_017029259.2:c.4828-160_4828-159delinsCT XP_016884748.1:n.4828-160_4828-159delinsCT
XM_017029260.1:c.4819-160_4819-159delinsCT XP_016884749.1:n.4819-160_4819-159delinsCT
XM_017029263.2:c.3157-160_3157-159delinsCT XP_016884752.1:n.3157-160_3157-159delinsCT
NM_000495.5:c.4804-160_4804-159delinsCT NP_000486.1:n.4804-160_4804-159delinsCT
NM_033380.3:c.4822-160_4822-159delinsCT MANE Select NP_203699.1:n.4822-160_4822-159delinsCT