Canonical Allele Identifier: CA2695219012
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170589del , CM000675.2:g.110170589del GRCh38
NC_000013.10:g.110822936del , CM000675.1:g.110822936del GRCh37
NC_000013.9:g.109620937del NCBI36
NG_011544.2:g.141563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3702del MANE Select ENSP00000364979.4:p.Gly1236GlufsTer?
ENST00000375820.8:c.3702del ENSP00000364979.4:p.Gly1236GlufsTer?
NM_001845.5:c.3702del NP_001836.3:p.Gly1236GlufsTer?
XM_011521048.1:c.3510del XP_011519350.1:p.Gly1172GlufsTer?
XM_011521048.2:c.3510del XP_011519350.1:p.Gly1172GlufsTer?
NM_001845.6:c.3702del MANE Select NP_001836.3:p.Gly1236GlufsTer?