Canonical Allele Identifier: CA591366867

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2990497
• ClinVar RCV Id: RCV003847176
• dbSNP Id: rs1455334351
• gnomAD v2: 9-139391798-GC-G
• gnomAD v4: 9-136497346-GC-G
• COSMIC: COSM4707590 ; COSM4707591
• MyVariant Identifiers: chr9:g.139391799del (hg19) ; chr9:g.136497347del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497352del , CM000671.2:g.136497352del	GRCh38
NC_000009.11:g.139391804del , CM000671.1:g.139391804del	GRCh37
NC_000009.10:g.138511625del	NCBI36
NG_007458.1:g.53440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6392del MANE Select	ENSP00000498587.1:p.Gly2131AlafsTer?
ENST00000679595.1:c.*1432del	ENSP00000506241.1:n.*1432del
ENST00000679969.1:n.2988del
ENST00000680003.1:n.2724del
ENST00000680133.1:c.6278del	ENSP00000505319.1:p.Gly2093AlafsTer?
ENST00000680218.1:c.6272del	ENSP00000505339.1:p.Gly2091AlafsTer?
ENST00000680668.1:c.6278del	ENSP00000506336.1:p.Gly2093AlafsTer?
ENST00000680778.1:c.3989del	ENSP00000506033.1:p.Gly1330AlafsTer?
ENST00000680924.1:c.*3792del	ENSP00000506031.1:n.*3792del
ENST00000681135.1:c.*4001del	ENSP00000506636.1:n.*4001del
ENST00000681298.1:n.4497del
ENST00000681454.1:c.*5628del	ENSP00000505763.1:n.*5628del
ENST00000277541.6:c.6392del	ENSP00000277541.6:p.Gly2131AlafsTer?
NM_017617.3:c.6392del	NP_060087.3:p.Gly2131AlafsTer?
XM_011518717.1:c.5693del	XP_011517019.1:p.Gly1898AlafsTer?
NM_017617.5:c.6392del MANE Select	NP_060087.3:p.Gly2131AlafsTer?
XM_011518717.2:c.5669del	XP_011517019.2:p.Gly1890AlafsTer?