Canonical Allele Identifier: CA658797365

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 504027
• ClinVar RCV Id: RCV000599316
• dbSNP Id: rs1554826736
• MyVariant Identifiers: chr9:g.139393601del (hg19) ; chr9:g.136499149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499149del , CM000671.2:g.136499149del	GRCh38
NC_000009.11:g.139393601del , CM000671.1:g.139393601del	GRCh37
NC_000009.10:g.138513422del	NCBI36
NG_007458.1:g.51638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6045del MANE Select	ENSP00000498587.1:p.Asn2016ThrfsTer9
ENST00000679595.1:c.*1085del	ENSP00000506241.1:n.*1085del
ENST00000679969.1:n.2526del
ENST00000680003.1:n.2377del
ENST00000680133.1:c.5931del	ENSP00000505319.1:p.Asn1978ThrfsTer9
ENST00000680218.1:c.5925del	ENSP00000505339.1:p.Asn1976ThrfsTer9
ENST00000680668.1:c.5931del	ENSP00000506336.1:p.Asn1978ThrfsTer9
ENST00000680778.1:c.3642del	ENSP00000506033.1:p.Asn1215ThrfsTer9
ENST00000680924.1:c.*3445del	ENSP00000506031.1:n.*3445del
ENST00000681135.1:c.*3654del	ENSP00000506636.1:n.*3654del
ENST00000681298.1:n.4150del
ENST00000681454.1:c.*5281del	ENSP00000505763.1:n.*5281del
ENST00000277541.6:c.6045del	ENSP00000277541.6:p.Asn2016ThrfsTer9
NM_017617.3:c.6045del	NP_060087.3:p.Asn2016ThrfsTer9
XM_011518717.1:c.5346del	XP_011517019.1:p.Asn1783ThrfsTer9
NM_017617.5:c.6045del MANE Select	NP_060087.3:p.Asn2016ThrfsTer9
XM_011518717.2:c.5322del	XP_011517019.2:p.Asn1775ThrfsTer9