Canonical Allele Identifier: CA2554550267
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108573646_108573647insA , CM000685.2:g.108573646_108573647insA GRCh38
NC_000023.10:g.107816876_107816877insA , CM000685.1:g.107816876_107816877insA GRCh37
NC_000023.9:g.107703532_107703533insA NCBI36
NG_011977.1:g.138723_138724insA
NG_011977.2:g.138723_138724insA

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.538_539insA MANE Select ENSP00000331902.7:p.Gly180GlufsTer?
ENST00000361603.7:c.538_539insA ENSP00000354505.2:p.Gly180GlufsTer?
ENST00000328300.10:c.538_539insA ENSP00000331902.6:p.Gly180GlufsTer?
ENST00000361603.6:c.538_539insA ENSP00000354505.2:p.Gly180GlufsTer?
NM_000495.4:c.538_539insA NP_000486.1:p.Gly180GlufsTer?
NM_033380.2:c.538_539insA NP_203699.1:p.Gly180GlufsTer?
XM_005262070.2:c.538_539insA XP_005262127.1:p.Gly180GlufsTer?
XM_005262072.3:c.538_539insA XP_005262129.1:p.Gly180GlufsTer?
XM_006724616.2:c.538_539insA XP_006724679.1:p.Gly180GlufsTer?
XM_011530849.1:c.214_215insA XP_011529151.1:p.Gly72GlufsTer?
XM_011530850.1:c.538_539insA XP_011529152.1:p.Gly180GlufsTer?
XM_011530849.2:c.553_554insA XP_011529151.2:p.Gly185GlufsTer?
XM_017029259.2:c.553_554insA XP_016884748.1:p.Gly185GlufsTer?
XM_017029260.1:c.553_554insA XP_016884749.1:p.Gly185GlufsTer?
XM_017029261.1:c.553_554insA XP_016884750.1:p.Gly185GlufsTer?
XM_017029262.2:c.553_554insA XP_016884751.1:p.Gly185GlufsTer?
NM_000495.5:c.538_539insA NP_000486.1:p.Gly180GlufsTer?
NM_033380.3:c.538_539insA MANE Select NP_203699.1:p.Gly180GlufsTer?