Canonical Allele Identifier: CA2497273463

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843300216

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517787_136517795del , CM000671.2:g.136517787_136517795del	GRCh38
NC_000009.11:g.139412239_139412247del , CM000671.1:g.139412239_139412247del	GRCh37
NC_000009.10:g.138532060_138532068del	NCBI36
NG_007458.1:g.32993_33001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1399_1407del MANE Select	ENSP00000498587.1:p.Cys467_Asp469del
ENST00000679595.1:c.1399_1407del	ENSP00000506241.1:p.Cys467_Asp469del
ENST00000680133.1:c.1399_1407del	ENSP00000505319.1:p.Cys467_Asp469del
ENST00000680218.1:c.1399_1407del	ENSP00000505339.1:p.Cys467_Asp469del
ENST00000680668.1:c.1399_1407del	ENSP00000506336.1:p.Cys467_Asp469del
ENST00000680924.1:c.1399_1407del	ENSP00000506031.1:p.Cys467_Asp469del
ENST00000681135.1:c.1399_1407del	ENSP00000506636.1:p.Cys467_Asp469del
ENST00000681454.1:c.*635_*643del	ENSP00000505763.1:n.*635_*643del
ENST00000277541.6:c.1399_1407del	ENSP00000277541.6:p.Cys467_Asp469del
NM_017617.3:c.1399_1407del	NP_060087.3:p.Cys467_Asp469del
XM_011518717.1:c.700_708del	XP_011517019.1:p.Cys234_Asp236del
NM_017617.5:c.1399_1407del MANE Select	NP_060087.3:p.Cys467_Asp469del
XM_011518717.2:c.676_684del	XP_011517019.2:p.Cys226_Asp228del