Canonical Allele Identifier: CA2450634564
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108439895_108439898delinsTCTC , CM000685.2:g.108439895_108439898delinsTCTC GRCh38
NC_000023.10:g.107683125_107683128delinsTCTC , CM000685.1:g.107683125_107683128delinsTCTC GRCh37
NC_000023.9:g.107569781_107569784delinsTCTC NCBI36
NG_011977.1:g.4972_4975delinsTCTC
NG_012059.2:g.4577_4580delinsGAGA
NG_011977.2:g.4972_4975delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.-231_-228delinsTCTC MANE Select ENSP00000331902.7:n.-231_-228delinsTCTC
ENST00000328300.10:c.-231_-228delinsTCTC ENSP00000331902.6:n.-231_-228delinsTCTC
ENST00000361603.6:c.-231_-228delinsTCTC ENSP00000354505.2:n.-231_-228delinsTCTC
ENST00000477429.1:n.52_55delinsTCTC
NM_000495.4:c.-231_-228delinsTCTC NP_000486.1:n.-231_-228delinsTCTC
NM_033380.2:c.-231_-228delinsTCTC NP_203699.1:n.-231_-228delinsTCTC
XM_005262070.2:c.-231_-228delinsTCTC XP_005262127.1:n.-231_-228delinsTCTC
XM_005262072.3:c.-231_-228delinsTCTC XP_005262129.1:n.-231_-228delinsTCTC
XM_006724616.2:c.-121+100_-121+103delinsTCTC XP_006724679.1:n.-121+100_-121+103delinsTCTC
XM_011530850.1:c.-231_-228delinsTCTC XP_011529152.1:n.-231_-228delinsTCTC
NM_000495.5:c.-231_-228delinsTCTC NP_000486.1:n.-231_-228delinsTCTC
NM_033380.3:c.-231_-228delinsTCTC MANE Select NP_203699.1:n.-231_-228delinsTCTC