Canonical Allele Identifier: CA645543402

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336604
• COSMIC: COSM28532

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504873delinsCAGGGGT , CM000671.2:g.136504873delinsCAGGGGT	GRCh38
NC_000009.11:g.139399325delinsCAGGGGT , CM000671.1:g.139399325delinsCAGGGGT	GRCh37
NC_000009.10:g.138519146delinsCAGGGGT	NCBI36
NG_007458.1:g.45914delinsACCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2625delinsACCCCTG
ENST00000651671.1:c.4818delinsACCCCTG MANE Select	ENSP00000498587.1:p.Phe1606delinsLeuProLeu
ENST00000679595.1:c.4818delinsACCCCTG	ENSP00000506241.1:p.Phe1606delinsLeuProLeu
ENST00000680133.1:c.4704delinsACCCCTG	ENSP00000505319.1:p.Phe1568delinsLeuProLeu
ENST00000680218.1:c.4698delinsACCCCTG	ENSP00000505339.1:p.Phe1566delinsLeuProLeu
ENST00000680668.1:c.4704delinsACCCCTG	ENSP00000506336.1:p.Phe1568delinsLeuProLeu
ENST00000680778.1:c.2415delinsACCCCTG	ENSP00000506033.1:p.Phe805delinsLeuProLeu
ENST00000680924.1:c.*2218delinsACCCCTG	ENSP00000506031.1:n.*2218delinsACCCCTG
ENST00000681135.1:c.*2427delinsACCCCTG	ENSP00000506636.1:n.*2427delinsACCCCTG
ENST00000681298.1:n.1631delinsACCCCTG
ENST00000681454.1:c.*4054delinsACCCCTG	ENSP00000505763.1:n.*4054delinsACCCCTG
ENST00000277541.6:c.4818delinsACCCCTG	ENSP00000277541.6:p.Phe1606delinsLeuProLeu
NM_017617.3:c.4818delinsACCCCTG	NP_060087.3:p.Phe1606delinsLeuProLeu
XM_011518717.1:c.4119delinsACCCCTG	XP_011517019.1:p.Phe1373delinsLeuProLeu
NM_017617.5:c.4818delinsACCCCTG MANE Select	NP_060087.3:p.Phe1606delinsLeuProLeu
XM_011518717.2:c.4095delinsACCCCTG	XP_011517019.2:p.Phe1365delinsLeuProLeu