Canonical Allele Identifier: CA2800581584
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192309_110192312del , CM000675.2:g.110192309_110192312del GRCh38
NC_000013.10:g.110844656_110844659del , CM000675.1:g.110844656_110844659del GRCh37
NC_000013.9:g.109642657_109642660del NCBI36
NG_011544.2:g.119840_119843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1466-26_1466-23del MANE Select ENSP00000364979.4:n.1466-26_1466-23del
ENST00000543140.6:c.1466-26_1466-23del ENSP00000443348.1:n.1466-26_1466-23del
ENST00000649738.1:n.1596-26_1596-23del
ENST00000375820.8:c.1466-26_1466-23del ENSP00000364979.4:n.1466-26_1466-23del
ENST00000543140.5:c.1466-26_1466-23del ENSP00000443348.1:n.1466-26_1466-23del
NM_001303110.1:c.1466-26_1466-23del NP_001290039.1:n.1466-26_1466-23del
NM_001845.5:c.1466-26_1466-23del NP_001836.3:n.1466-26_1466-23del
XM_011521048.1:c.1274-26_1274-23del XP_011519350.1:n.1274-26_1274-23del
XM_011521048.2:c.1274-26_1274-23del XP_011519350.1:n.1274-26_1274-23del
NM_001845.6:c.1466-26_1466-23del MANE Select NP_001836.3:n.1466-26_1466-23del
NM_001303110.2:c.1466-26_1466-23del NP_001290039.1:n.1466-26_1466-23del