Canonical Allele Identifier: CA2721108895

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335965

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504753del , CM000671.2:g.136504753del	GRCh38
NC_000009.11:g.139399205del , CM000671.1:g.139399205del	GRCh37
NC_000009.10:g.138519026del	NCBI36
NG_007458.1:g.46035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2746del
ENST00000651671.1:c.4939del MANE Select	ENSP00000498587.1:p.Gln1647ArgfsTer2
ENST00000679595.1:c.4939del	ENSP00000506241.1:p.Gln1647ArgfsTer2
ENST00000680133.1:c.4825del	ENSP00000505319.1:p.Gln1609ArgfsTer2
ENST00000680218.1:c.4819del	ENSP00000505339.1:p.Gln1607ArgfsTer2
ENST00000680668.1:c.4825del	ENSP00000506336.1:p.Gln1609ArgfsTer2
ENST00000680778.1:c.2536del	ENSP00000506033.1:p.Gln846ArgfsTer2
ENST00000680924.1:c.*2339del	ENSP00000506031.1:n.*2339del
ENST00000681135.1:c.*2548del	ENSP00000506636.1:n.*2548del
ENST00000681298.1:n.1752del
ENST00000681454.1:c.*4175del	ENSP00000505763.1:n.*4175del
ENST00000277541.6:c.4939del	ENSP00000277541.6:p.Gln1647ArgfsTer2
ENST00000494783.1:n.94del
NM_017617.3:c.4939del	NP_060087.3:p.Gln1647ArgfsTer2
XM_011518717.1:c.4240del	XP_011517019.1:p.Gln1414ArgfsTer2
NM_017617.5:c.4939del MANE Select	NP_060087.3:p.Gln1647ArgfsTer2
XM_011518717.2:c.4216del	XP_011517019.2:p.Gln1406ArgfsTer2