Canonical Allele Identifier: CA861080619

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1317124794
• MyVariant Identifiers: chr9:g.139399268_139399270del (hg19) ; chr9:g.136504816_136504818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504822_136504824del , CM000671.2:g.136504822_136504824del	GRCh38
NC_000009.11:g.139399274_139399276del , CM000671.1:g.139399274_139399276del	GRCh37
NC_000009.10:g.138519095_138519097del	NCBI36
NG_007458.1:g.45969_45971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2680_2682del
ENST00000651671.1:c.4873_4875del MANE Select	ENSP00000498587.1:p.Glu1625del
ENST00000679595.1:c.4873_4875del	ENSP00000506241.1:p.Glu1625del
ENST00000680133.1:c.4759_4761del	ENSP00000505319.1:p.Glu1587del
ENST00000680218.1:c.4753_4755del	ENSP00000505339.1:p.Glu1585del
ENST00000680668.1:c.4759_4761del	ENSP00000506336.1:p.Glu1587del
ENST00000680778.1:c.2470_2472del	ENSP00000506033.1:p.Glu824del
ENST00000680924.1:c.*2273_*2275del	ENSP00000506031.1:n.*2273_*2275del
ENST00000681135.1:c.*2482_*2484del	ENSP00000506636.1:n.*2482_*2484del
ENST00000681298.1:n.1686_1688del
ENST00000681454.1:c.*4109_*4111del	ENSP00000505763.1:n.*4109_*4111del
ENST00000277541.6:c.4873_4875del	ENSP00000277541.6:p.Glu1625del
ENST00000494783.1:n.28_30del
NM_017617.3:c.4873_4875del	NP_060087.3:p.Glu1625del
XM_011518717.1:c.4174_4176del	XP_011517019.1:p.Glu1392del
NM_017617.5:c.4873_4875del MANE Select	NP_060087.3:p.Glu1625del
XM_011518717.2:c.4150_4152del	XP_011517019.2:p.Glu1384del