Canonical Allele Identifier: CA2502259553

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504773del , CM000671.2:g.136504773del	GRCh38
NC_000009.11:g.139399225del , CM000671.1:g.139399225del	GRCh37
NC_000009.10:g.138519046del	NCBI36
NG_007458.1:g.46014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2725del
ENST00000651671.1:c.4918del MANE Select	ENSP00000498587.1:p.Ala1640HisfsTer9
ENST00000679595.1:c.4918del	ENSP00000506241.1:p.Ala1640HisfsTer9
ENST00000680133.1:c.4804del	ENSP00000505319.1:p.Ala1602HisfsTer9
ENST00000680218.1:c.4798del	ENSP00000505339.1:p.Ala1600HisfsTer9
ENST00000680668.1:c.4804del	ENSP00000506336.1:p.Ala1602HisfsTer9
ENST00000680778.1:c.2515del	ENSP00000506033.1:p.Ala839HisfsTer9
ENST00000680924.1:c.*2318del	ENSP00000506031.1:n.*2318del
ENST00000681135.1:c.*2527del	ENSP00000506636.1:n.*2527del
ENST00000681298.1:n.1731del
ENST00000681454.1:c.*4154del	ENSP00000505763.1:n.*4154del
ENST00000277541.6:c.4918del	ENSP00000277541.6:p.Ala1640HisfsTer9
ENST00000494783.1:n.73del
NM_017617.3:c.4918del	NP_060087.3:p.Ala1640HisfsTer9
XM_011518717.1:c.4219del	XP_011517019.1:p.Ala1407HisfsTer9
NM_017617.5:c.4918del MANE Select	NP_060087.3:p.Ala1640HisfsTer9
XM_011518717.2:c.4195del	XP_011517019.2:p.Ala1399HisfsTer9