Canonical Allele Identifier: CA2450697222
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108623877_108623878delinsTA , CM000685.2:g.108623877_108623878delinsTA GRCh38
NC_000023.10:g.107867107_107867108delinsTA , CM000685.1:g.107867107_107867108delinsTA GRCh37
NC_000023.9:g.107753763_107753764delinsTA NCBI36
NG_011977.1:g.188954_188955delinsTA
NG_011977.2:g.188954_188955delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2918-359_2918-358delinsTA MANE Select ENSP00000331902.7:n.2918-359_2918-358delinsTA
ENST00000361603.7:c.2918-359_2918-358delinsTA ENSP00000354505.2:n.2918-359_2918-358delinsTA
ENST00000328300.10:c.2918-359_2918-358delinsTA ENSP00000331902.6:n.2918-359_2918-358delinsTA
ENST00000361603.6:c.2918-359_2918-358delinsTA ENSP00000354505.2:n.2918-359_2918-358delinsTA
ENST00000483338.1:n.2374-359_2374-358delinsTA
ENST00000505728.1:c.151-359_151-358delinsTA
NM_000495.4:c.2918-359_2918-358delinsTA NP_000486.1:n.2918-359_2918-358delinsTA
NM_033380.2:c.2918-359_2918-358delinsTA NP_203699.1:n.2918-359_2918-358delinsTA
XM_005262070.2:c.2918-359_2918-358delinsTA XP_005262127.1:n.2918-359_2918-358delinsTA
XM_005262072.3:c.2918-359_2918-358delinsTA XP_005262129.1:n.2918-359_2918-358delinsTA
XM_006724616.2:c.2918-359_2918-358delinsTA XP_006724679.1:n.2918-359_2918-358delinsTA
XM_011530849.1:c.2594-359_2594-358delinsTA XP_011529151.1:n.2594-359_2594-358delinsTA
XM_011530850.1:c.2918-359_2918-358delinsTA XP_011529152.1:n.2918-359_2918-358delinsTA
XM_011530851.1:c.491-359_491-358delinsTA XP_011529153.1:n.491-359_491-358delinsTA
XM_011530849.2:c.2933-359_2933-358delinsTA XP_011529151.2:n.2933-359_2933-358delinsTA
XM_017029259.2:c.2933-359_2933-358delinsTA XP_016884748.1:n.2933-359_2933-358delinsTA
XM_017029260.1:c.2933-359_2933-358delinsTA XP_016884749.1:n.2933-359_2933-358delinsTA
XM_017029261.1:c.2933-359_2933-358delinsTA XP_016884750.1:n.2933-359_2933-358delinsTA
XM_017029262.2:c.2933-359_2933-358delinsTA XP_016884751.1:n.2933-359_2933-358delinsTA
XM_017029263.2:c.1253-359_1253-358delinsTA XP_016884752.1:n.1253-359_1253-358delinsTA
NM_000495.5:c.2918-359_2918-358delinsTA NP_000486.1:n.2918-359_2918-358delinsTA
NM_033380.3:c.2918-359_2918-358delinsTA MANE Select NP_203699.1:n.2918-359_2918-358delinsTA