Canonical Allele Identifier: CA645543470

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336888
• COSMIC: COSM5546606

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504915_136504916insGCCCCT , CM000671.2:g.136504915_136504916insGCCCCT	GRCh38
NC_000009.11:g.139399367_139399368insGCCCCT , CM000671.1:g.139399367_139399368insGCCCCT	GRCh37
NC_000009.10:g.138519188_138519189insGCCCCT	NCBI36
NG_007458.1:g.45871_45872insAGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2582_2583insAGGGGC
ENST00000651671.1:c.4775_4776insAGGGGC MANE Select	ENSP00000498587.1:p.Phe1592delinsLeuGlyAla
ENST00000679595.1:c.4775_4776insAGGGGC	ENSP00000506241.1:p.Phe1592delinsLeuGlyAla
ENST00000680133.1:c.4661_4662insAGGGGC	ENSP00000505319.1:p.Phe1554delinsLeuGlyAla
ENST00000680218.1:c.4655_4656insAGGGGC	ENSP00000505339.1:p.Phe1552delinsLeuGlyAla
ENST00000680668.1:c.4661_4662insAGGGGC	ENSP00000506336.1:p.Phe1554delinsLeuGlyAla
ENST00000680778.1:c.2372_2373insAGGGGC	ENSP00000506033.1:p.Phe791delinsLeuGlyAla
ENST00000680924.1:c.*2175_*2176insAGGGGC	ENSP00000506031.1:n.*2175_*2176insAGGGGC
ENST00000681135.1:c.*2384_*2385insAGGGGC	ENSP00000506636.1:n.*2384_*2385insAGGGGC
ENST00000681298.1:n.1588_1589insAGGGGC
ENST00000681454.1:c.*4011_*4012insAGGGGC	ENSP00000505763.1:n.*4011_*4012insAGGGGC
ENST00000277541.6:c.4775_4776insAGGGGC	ENSP00000277541.6:p.Phe1592delinsLeuGlyAla
NM_017617.3:c.4775_4776insAGGGGC	NP_060087.3:p.Phe1592delinsLeuGlyAla
XM_011518717.1:c.4076_4077insAGGGGC	XP_011517019.1:p.Phe1359delinsLeuGlyAla
NM_017617.5:c.4775_4776insAGGGGC MANE Select	NP_060087.3:p.Phe1592delinsLeuGlyAla
XM_011518717.2:c.4052_4053insAGGGGC	XP_011517019.2:p.Phe1351delinsLeuGlyAla