Canonical Allele Identifier: CA2694440385
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108624284_108624301dup , CM000685.2:g.108624284_108624301dup GRCh38
NC_000023.10:g.107867514_107867531dup , CM000685.1:g.107867514_107867531dup GRCh37
NC_000023.9:g.107754170_107754187dup NCBI36
NG_011977.1:g.189361_189378dup
NG_011977.2:g.189361_189378dup

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2966_2983dup MANE Select ENSP00000331902.7:p.Gly994_Leu995insHisPr...
ENST00000361603.7:c.2966_2983dup ENSP00000354505.2:p.Gly994_Leu995insHisPr...
ENST00000328300.10:c.2966_2983dup ENSP00000331902.6:p.Gly994_Leu995insHisPr...
ENST00000361603.6:c.2966_2983dup ENSP00000354505.2:p.Gly994_Leu995insHisPr...
ENST00000483338.1:n.2422_2439dup
ENST00000505728.1:c.199_216dup
NM_000495.4:c.2966_2983dup NP_000486.1:p.Gly994_Leu995insHisProGlyGl...
NM_033380.2:c.2966_2983dup NP_203699.1:p.Gly994_Leu995insHisProGlyGl...
XM_005262070.2:c.2966_2983dup XP_005262127.1:p.Gly994_Leu995insHisProGl...
XM_005262072.3:c.2966_2983dup XP_005262129.1:p.Gly994_Leu995insHisProGl...
XM_006724616.2:c.2966_2983dup XP_006724679.1:p.Gly994_Leu995insHisProGl...
XM_011530849.1:c.2642_2659dup XP_011529151.1:p.Gly886_Leu887insHisProGl...
XM_011530850.1:c.2966_2983dup XP_011529152.1:p.Gly994_Leu995insHisProGl...
XM_011530851.1:c.539_556dup XP_011529153.1:p.Gly185_Leu186insHisProGl...
XM_011530849.2:c.2981_2998dup XP_011529151.2:p.Gly999_Leu1000insHisProG...
XM_017029259.2:c.2981_2998dup XP_016884748.1:p.Gly999_Leu1000insHisProG...
XM_017029260.1:c.2981_2998dup XP_016884749.1:p.Gly999_Leu1000insHisProG...
XM_017029261.1:c.2981_2998dup XP_016884750.1:p.Gly999_Leu1000insHisProG...
XM_017029262.2:c.2981_2998dup XP_016884751.1:p.Gly999_Leu1000insHisProG...
XM_017029263.2:c.1301_1318dup XP_016884752.1:p.Gly439_Leu440insHisProGl...
NM_000495.5:c.2966_2983dup NP_000486.1:p.Gly994_Leu995insHisProGlyGl...
NM_033380.3:c.2966_2983dup MANE Select NP_203699.1:p.Gly994_Leu995insHisProGlyGl...