Canonical Allele Identifier: CA2822894555
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108440207_108440208insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT , CM000685.2:g.108440207_108440208insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT GRCh38
NC_000023.10:g.107683437_107683438insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT , CM000685.1:g.107683437_107683438insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT GRCh37
NC_000023.9:g.107570093_107570094insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT NCBI36
NG_011977.1:g.5284_5285insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT
NG_012059.2:g.4267_4268insAACCTGGAAACCCTCTCTCTCCCTTTTCCCCTTTTATGCCACTGCAGTCACACTTTGATCCTGGAGAACACCCATAGCAAG
NG_011977.2:g.5284_5285insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT MANE Select ENSP00000331902.7:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAG...
ENST00000361603.7:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT ENSP00000354505.2:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAG...
ENST00000642185.1:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT ENSP00000495101.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAG...
ENST00000328300.10:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT ENSP00000331902.6:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAG...
ENST00000361603.6:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT ENSP00000354505.2:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAG...
ENST00000470339.1:n.265+1_265+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT
ENST00000477429.1:n.363+1_363+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT
NM_000495.4:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT NP_000486.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGAC...
NM_033380.2:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT NP_203699.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGAC...
XM_005262070.2:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT XP_005262127.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGT...
XM_005262072.3:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT XP_005262129.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGT...
XM_006724616.2:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT XP_006724679.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGT...
XM_011530850.1:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT XP_011529152.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGT...
NM_000495.5:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT NP_000486.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGAC...
NM_033380.3:c.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTT MANE Select NP_203699.1:n.81+1_81+2insCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGAC...