Canonical Allele Identifier: CA645543475

Gene: NOTCH1

Linked Data

• COSMIC: COSM1737987

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504926_136504927insTCTGTTGCGCAGCTGCTCCGGCGGCGTTAAGGA , CM000671.2:g.136504926_136504927insTCTGTTGCGCAGCTGCTCCGGCGGCGTTAAGGA	GRCh38
NC_000009.11:g.139399378_139399379insTCTGTTGCGCAGCTGCTCCGGCGGCGTTAAGGA , CM000671.1:g.139399378_139399379insTCTGTTGCGCAGCTGCTCCGGCGGCGTTAAGGA	GRCh37
NC_000009.10:g.138519199_138519200insTCTGTTGCGCAGCTGCTCCGGCGGCGTTAAGGA	NCBI36
NG_007458.1:g.45865_45866insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2576_2577insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT
ENST00000651671.1:c.4769_4770insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT MANE Select	ENSP00000498587.1:p.Ser1589_Phe1590insLeuThrProProGluGlnLeuAr...
ENST00000679595.1:c.4769_4770insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000506241.1:p.Ser1589_Phe1590insLeuThrProProGluGlnLeuAr...
ENST00000680133.1:c.4655_4656insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000505319.1:p.Ser1551_Phe1552insLeuThrProProGluGlnLeuAr...
ENST00000680218.1:c.4649_4650insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000505339.1:p.Ser1549_Phe1550insLeuThrProProGluGlnLeuAr...
ENST00000680668.1:c.4655_4656insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000506336.1:p.Ser1551_Phe1552insLeuThrProProGluGlnLeuAr...
ENST00000680778.1:c.2366_2367insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000506033.1:p.Ser788_Phe789insLeuThrProProGluGlnLeuArgA...
ENST00000680924.1:c.*2169_*2170insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000506031.1:n.*2169_*2170insAACGCCGCCGGAGCAGCTGCGCAACAG...
ENST00000681135.1:c.*2378_*2379insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000506636.1:n.*2378_*2379insAACGCCGCCGGAGCAGCTGCGCAACAG...
ENST00000681298.1:n.1582_1583insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT
ENST00000681454.1:c.*4005_*4006insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000505763.1:n.*4005_*4006insAACGCCGCCGGAGCAGCTGCGCAACAG...
ENST00000277541.6:c.4769_4770insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	ENSP00000277541.6:p.Ser1589_Phe1590insLeuThrProProGluGlnLeuAr...
NM_017617.3:c.4769_4770insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	NP_060087.3:p.Ser1589_Phe1590insLeuThrProProGluGlnLeuArgAsnAr...
XM_011518717.1:c.4070_4071insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	XP_011517019.1:p.Ser1356_Phe1357insLeuThrProProGluGlnLeuArgAs...
NM_017617.5:c.4769_4770insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT MANE Select	NP_060087.3:p.Ser1589_Phe1590insLeuThrProProGluGlnLeuArgAsnAr...
XM_011518717.2:c.4046_4047insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT	XP_011517019.2:p.Ser1348_Phe1349insLeuThrProProGluGlnLeuArgAs...