Canonical Allele Identifier: CA645543446

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336868
• COSMIC: COSM1155769

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504915_136504916insGGATGG , CM000671.2:g.136504915_136504916insGGATGG	GRCh38
NC_000009.11:g.139399367_139399368insGGATGG , CM000671.1:g.139399367_139399368insGGATGG	GRCh37
NC_000009.10:g.138519188_138519189insGGATGG	NCBI36
NG_007458.1:g.45873_45874insATCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2584_2585insATCCCC
ENST00000651671.1:c.4777_4778insATCCCC MANE Select	ENSP00000498587.1:p.Phe1592_Leu1593insHisPro
ENST00000679595.1:c.4777_4778insATCCCC	ENSP00000506241.1:p.Phe1592_Leu1593insHisPro
ENST00000680133.1:c.4663_4664insATCCCC	ENSP00000505319.1:p.Phe1554_Leu1555insHisPro
ENST00000680218.1:c.4657_4658insATCCCC	ENSP00000505339.1:p.Phe1552_Leu1553insHisPro
ENST00000680668.1:c.4663_4664insATCCCC	ENSP00000506336.1:p.Phe1554_Leu1555insHisPro
ENST00000680778.1:c.2374_2375insATCCCC	ENSP00000506033.1:p.Phe791_Leu792insHisPro
ENST00000680924.1:c.*2177_*2178insATCCCC	ENSP00000506031.1:n.*2177_*2178insATCCCC
ENST00000681135.1:c.*2386_*2387insATCCCC	ENSP00000506636.1:n.*2386_*2387insATCCCC
ENST00000681298.1:n.1590_1591insATCCCC
ENST00000681454.1:c.*4013_*4014insATCCCC	ENSP00000505763.1:n.*4013_*4014insATCCCC
ENST00000277541.6:c.4777_4778insATCCCC	ENSP00000277541.6:p.Phe1592_Leu1593insHisPro
NM_017617.3:c.4777_4778insATCCCC	NP_060087.3:p.Phe1592_Leu1593insHisPro
XM_011518717.1:c.4078_4079insATCCCC	XP_011517019.1:p.Phe1359_Leu1360insHisPro
NM_017617.5:c.4777_4778insATCCCC MANE Select	NP_060087.3:p.Phe1592_Leu1593insHisPro
XM_011518717.2:c.4054_4055insATCCCC	XP_011517019.2:p.Phe1351_Leu1352insHisPro