Canonical Allele Identifier: CA97583637
Community Standard Title: NM_025009.5(CEP135):c.2505+282del
Gene: CEP135 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56010185del , CM000666.2:g.56010185del GRCh38
NC_000004.11:g.56876351del , CM000666.1:g.56876351del GRCh37
NC_000004.10:g.56571108del NCBI36
NG_032806.1:g.66378del

Transcript Alleles

HGVS Amino-acid Change
NM_025009.5:c.2505+282del MANE Select NP_079285.2:n.2505+282del
ENST00000257287.5:c.2505+282del MANE Select ENSP00000257287.3:n.2505+282del
NM_025009.4:c.2505+282del NP_079285.2:n.2505+282del
ENST00000257287.4:c.2505+282del ENSP00000257287.3:n.2505+282del
ENST00000506202.1:n.2455+282del
ENST00000706801.1:n.570+282del
XM_005265788.2:c.1434+282del XP_005265845.1:n.1434+282del
XM_005265788.4:c.1434+282del XP_005265845.1:n.1434+282del
XM_006714055.2:c.2472+282del XP_006714118.1:n.2472+282del
XM_006714055.3:c.2472+282del XP_006714118.1:n.2472+282del
XM_011534412.1:c.975+282del XP_011532714.1:n.975+282del
XM_011534412.2:c.975+282del XP_011532714.1:n.975+282del