Canonical Allele Identifier: CA2497273340

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843056326

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504957_136504960del , CM000671.2:g.136504957_136504960del	GRCh38
NC_000009.11:g.139399409_139399412del , CM000671.1:g.139399409_139399412del	GRCh37
NC_000009.10:g.138519230_138519233del	NCBI36
NG_007458.1:g.45827_45830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2538_2541del
ENST00000651671.1:c.4731_4734del MANE Select	ENSP00000498587.1:p.Val1578Ter
ENST00000679595.1:c.4731_4734del	ENSP00000506241.1:p.Val1578Ter
ENST00000680133.1:c.4617_4620del	ENSP00000505319.1:p.Val1540Ter
ENST00000680218.1:c.4611_4614del	ENSP00000505339.1:p.Val1538Ter
ENST00000680668.1:c.4617_4620del	ENSP00000506336.1:p.Val1540Ter
ENST00000680778.1:c.2328_2331del	ENSP00000506033.1:p.Val777Ter
ENST00000680924.1:c.*2131_*2134del	ENSP00000506031.1:n.*2131_*2134del
ENST00000681135.1:c.*2340_*2343del	ENSP00000506636.1:n.*2340_*2343del
ENST00000681298.1:n.1544_1547del
ENST00000681454.1:c.*3967_*3970del	ENSP00000505763.1:n.*3967_*3970del
ENST00000277541.6:c.4731_4734del	ENSP00000277541.6:p.Val1578Ter
NM_017617.3:c.4731_4734del	NP_060087.3:p.Val1578Ter
XM_011518717.1:c.4032_4035del	XP_011517019.1:p.Val1345Ter
NM_017617.5:c.4731_4734del MANE Select	NP_060087.3:p.Val1578Ter
XM_011518717.2:c.4008_4011del	XP_011517019.2:p.Val1337Ter