Canonical Allele Identifier: CA2579676355
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108601471_108601472del , CM000685.2:g.108601471_108601472del GRCh38
NC_000023.10:g.107844701_107844702del , CM000685.1:g.107844701_107844702del GRCh37
NC_000023.9:g.107731357_107731358del NCBI36
NG_011977.1:g.166548_166549del
NG_011977.2:g.166548_166549del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2027_2028del MANE Select ENSP00000331902.7:p.Asp676GlyfsTer6
ENST00000361603.7:c.2027_2028del ENSP00000354505.2:p.Asp676GlyfsTer6
ENST00000328300.10:c.2027_2028del ENSP00000331902.6:p.Asp676GlyfsTer6
ENST00000361603.6:c.2027_2028del ENSP00000354505.2:p.Asp676GlyfsTer6
ENST00000483338.1:n.1483_1484del
NM_000495.4:c.2027_2028del NP_000486.1:p.Asp676GlyfsTer6
NM_033380.2:c.2027_2028del NP_203699.1:p.Asp676GlyfsTer6
XM_005262070.2:c.2027_2028del XP_005262127.1:p.Asp676GlyfsTer6
XM_005262072.3:c.2027_2028del XP_005262129.1:p.Asp676GlyfsTer6
XM_006724616.2:c.2027_2028del XP_006724679.1:p.Asp676GlyfsTer6
XM_011530849.1:c.1703_1704del XP_011529151.1:p.Asp568GlyfsTer6
XM_011530850.1:c.2027_2028del XP_011529152.1:p.Asp676GlyfsTer6
XM_011530849.2:c.2042_2043del XP_011529151.2:p.Asp681GlyfsTer6
XM_017029259.2:c.2042_2043del XP_016884748.1:p.Asp681GlyfsTer6
XM_017029260.1:c.2042_2043del XP_016884749.1:p.Asp681GlyfsTer6
XM_017029261.1:c.2042_2043del XP_016884750.1:p.Asp681GlyfsTer6
XM_017029262.2:c.2042_2043del XP_016884751.1:p.Asp681GlyfsTer6
XM_017029263.2:c.362_363del XP_016884752.1:p.Asp121GlyfsTer6
NM_000495.5:c.2027_2028del NP_000486.1:p.Asp676GlyfsTer6
NM_033380.3:c.2027_2028del MANE Select NP_203699.1:p.Asp676GlyfsTer6