Canonical Allele Identifier: CA2450712387
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs2068087542

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108666694_108666695insCCTC , CM000685.2:g.108666694_108666695insCCTC GRCh38
NC_000023.10:g.107909924_107909925insCCTC , CM000685.1:g.107909924_107909925insCCTC GRCh37
NC_000023.9:g.107796580_107796581insCCTC NCBI36
NG_011977.1:g.231771_231772insCCTC
NG_011977.2:g.231771_231772insCCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3553+100_3553+101insCCTC MANE Select ENSP00000331902.7:n.3553+100_3553+101insCCTC
ENST00000361603.7:c.3553+100_3553+101insCCTC ENSP00000354505.2:n.3553+100_3553+101insCCTC
ENST00000328300.10:c.3553+100_3553+101insCCTC ENSP00000331902.6:n.3553+100_3553+101insCCTC
ENST00000361603.6:c.3553+100_3553+101insCCTC ENSP00000354505.2:n.3553+100_3553+101insCCTC
NM_000495.4:c.3553+100_3553+101insCCTC NP_000486.1:n.3553+100_3553+101insCCTC
NM_033380.2:c.3553+100_3553+101insCCTC NP_203699.1:n.3553+100_3553+101insCCTC
XM_005262070.2:c.3553+100_3553+101insCCTC XP_005262127.1:n.3553+100_3553+101insCCTC
XM_006724616.2:c.3553+100_3553+101insCCTC XP_006724679.1:n.3553+100_3553+101insCCTC
XM_011530849.1:c.3229+100_3229+101insCCTC XP_011529151.1:n.3229+100_3229+101insCCTC
XM_011530850.1:c.3553+100_3553+101insCCTC XP_011529152.1:n.3553+100_3553+101insCCTC
XM_011530851.1:c.1126+100_1126+101insCCTC XP_011529153.1:n.1126+100_1126+101insCCTC
XM_011530849.2:c.3568+100_3568+101insCCTC XP_011529151.2:n.3568+100_3568+101insCCTC
XM_017029259.2:c.3568+100_3568+101insCCTC XP_016884748.1:n.3568+100_3568+101insCCTC
XM_017029260.1:c.3568+100_3568+101insCCTC XP_016884749.1:n.3568+100_3568+101insCCTC
XM_017029261.1:c.3568+100_3568+101insCCTC XP_016884750.1:n.3568+100_3568+101insCCTC
XM_017029262.2:c.3568+100_3568+101insCCTC XP_016884751.1:n.3568+100_3568+101insCCTC
XM_017029263.2:c.1888+100_1888+101insCCTC XP_016884752.1:n.1888+100_1888+101insCCTC
NM_000495.5:c.3553+100_3553+101insCCTC NP_000486.1:n.3553+100_3553+101insCCTC
NM_033380.3:c.3553+100_3553+101insCCTC MANE Select NP_203699.1:n.3553+100_3553+101insCCTC