Canonical Allele Identifier: CA2623676804
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110212638del , CM000675.2:g.110212638del GRCh38
NC_000013.10:g.110864985del , CM000675.1:g.110864985del GRCh37
NC_000013.9:g.109662986del NCBI36
NG_011544.2:g.99515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.280-17del MANE Select ENSP00000364979.4:n.280-17del
ENST00000543140.6:c.280-17del ENSP00000443348.1:n.280-17del
ENST00000615732.2:c.88-17del ENSP00000478222.2:n.88-17del
ENST00000647797.1:c.159-17del
ENST00000648170.1:n.159-17del
ENST00000648966.1:c.159-17del
ENST00000649484.1:c.159-17del
ENST00000649738.1:n.410-17del
ENST00000375820.8:c.280-17del ENSP00000364979.4:n.280-17del
ENST00000543140.5:c.280-17del ENSP00000443348.1:n.280-17del
ENST00000615732.1:c.88-17del ENSP00000478222.1:n.88-17del
NM_001303110.1:c.280-17del NP_001290039.1:n.280-17del
NM_001845.5:c.280-17del NP_001836.3:n.280-17del
XM_011521048.1:c.88-17del XP_011519350.1:n.88-17del
XM_011521048.2:c.88-17del XP_011519350.1:n.88-17del
NM_001845.6:c.280-17del MANE Select NP_001836.3:n.280-17del
NM_001303110.2:c.280-17del NP_001290039.1:n.280-17del