Canonical Allele Identifier: CA645543371
Gene: NOTCH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504729del , CM000671.2:g.136504729del GRCh38
NC_000009.11:g.139399181del , CM000671.1:g.139399181del GRCh37
NC_000009.10:g.138519002del NCBI36
NG_007458.1:g.46058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.2769del
ENST00000651671.1:c.4962del MANE Select ENSP00000498587.1:p.Gly1655ValfsTer?
ENST00000679595.1:c.4962del ENSP00000506241.1:p.Gly1655ValfsTer?
ENST00000680133.1:c.4848del ENSP00000505319.1:p.Gly1617ValfsTer?
ENST00000680218.1:c.4842del ENSP00000505339.1:p.Gly1615ValfsTer?
ENST00000680668.1:c.4848del ENSP00000506336.1:p.Gly1617ValfsTer?
ENST00000680778.1:c.2559del ENSP00000506033.1:p.Gly854ValfsTer?
ENST00000680924.1:c.*2362del ENSP00000506031.1:n.*2362del
ENST00000681135.1:c.*2571del ENSP00000506636.1:n.*2571del
ENST00000681298.1:n.1775del
ENST00000681454.1:c.*4198del ENSP00000505763.1:n.*4198del
ENST00000277541.6:c.4962del ENSP00000277541.6:p.Gly1655ValfsTer?
ENST00000494783.1:n.117del
NM_017617.3:c.4962del NP_060087.3:p.Gly1655ValfsTer?
XM_011518717.1:c.4263del XP_011517019.1:p.Gly1422ValfsTer?
NM_017617.5:c.4962del MANE Select NP_060087.3:p.Gly1655ValfsTer?
XM_011518717.2:c.4239del XP_011517019.2:p.Gly1414ValfsTer?