Canonical Allele Identifier: CA891843341

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 572044
• ClinVar RCV Id: RCV000693336
• dbSNP Id: rs1564199476
• MyVariant Identifiers: chr9:g.139412249del (hg19) ; chr9:g.136517797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517797del , CM000671.2:g.136517797del	GRCh38
NC_000009.11:g.139412249del , CM000671.1:g.139412249del	GRCh37
NC_000009.10:g.138532070del	NCBI36
NG_007458.1:g.32990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1396del MANE Select	ENSP00000498587.1:p.Thr466ProfsTer?
ENST00000679595.1:c.1396del	ENSP00000506241.1:p.Thr466ProfsTer?
ENST00000680133.1:c.1396del	ENSP00000505319.1:p.Thr466ProfsTer?
ENST00000680218.1:c.1396del	ENSP00000505339.1:p.Thr466ProfsTer?
ENST00000680668.1:c.1396del	ENSP00000506336.1:p.Thr466ProfsTer?
ENST00000680924.1:c.1396del	ENSP00000506031.1:p.Thr466ProfsTer?
ENST00000681135.1:c.1396del	ENSP00000506636.1:p.Thr466ProfsTer?
ENST00000681454.1:c.*632del	ENSP00000505763.1:n.*632del
ENST00000277541.6:c.1396del	ENSP00000277541.6:p.Thr466ProfsTer?
NM_017617.3:c.1396del	NP_060087.3:p.Thr466ProfsTer?
XM_011518717.1:c.697del	XP_011517019.1:p.Thr233ProfsTer?
NM_017617.5:c.1396del MANE Select	NP_060087.3:p.Thr466ProfsTer?
XM_011518717.2:c.673del	XP_011517019.2:p.Thr225ProfsTer?