Canonical Allele Identifier: CA334051474
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886373

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108624246_108624247del , CM000685.2:g.108624246_108624247del GRCh38
NC_000023.10:g.107867476_107867477del , CM000685.1:g.107867476_107867477del GRCh37
NC_000023.9:g.107754132_107754133del NCBI36
NG_011977.1:g.189323_189324del
NG_011977.2:g.189323_189324del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2928_2929del MANE Select ENSP00000331902.7:p.Val977PhefsTer?
ENST00000361603.7:c.2928_2929del ENSP00000354505.2:p.Val977PhefsTer?
ENST00000328300.10:c.2928_2929del ENSP00000331902.6:p.Val977PhefsTer?
ENST00000361603.6:c.2928_2929del ENSP00000354505.2:p.Val977PhefsTer?
ENST00000483338.1:n.2384_2385del
ENST00000505728.1:c.161_162del
NM_000495.4:c.2928_2929del NP_000486.1:p.Val977PhefsTer?
NM_033380.2:c.2928_2929del NP_203699.1:p.Val977PhefsTer?
XM_005262070.2:c.2928_2929del XP_005262127.1:p.Val977PhefsTer?
XM_005262072.3:c.2928_2929del XP_005262129.1:p.Val977PhefsTer?
XM_006724616.2:c.2928_2929del XP_006724679.1:p.Val977PhefsTer?
XM_011530849.1:c.2604_2605del XP_011529151.1:p.Val869PhefsTer?
XM_011530850.1:c.2928_2929del XP_011529152.1:p.Val977PhefsTer?
XM_011530851.1:c.501_502del XP_011529153.1:p.Val168PhefsTer?
XM_011530849.2:c.2943_2944del XP_011529151.2:p.Val982PhefsTer?
XM_017029259.2:c.2943_2944del XP_016884748.1:p.Val982PhefsTer?
XM_017029260.1:c.2943_2944del XP_016884749.1:p.Val982PhefsTer?
XM_017029261.1:c.2943_2944del XP_016884750.1:p.Val982PhefsTer?
XM_017029262.2:c.2943_2944del XP_016884751.1:p.Val982PhefsTer?
XM_017029263.2:c.1263_1264del XP_016884752.1:p.Val422PhefsTer?
NM_000495.5:c.2928_2929del NP_000486.1:p.Val977PhefsTer?
NM_033380.3:c.2928_2929del MANE Select NP_203699.1:p.Val977PhefsTer?