Canonical Allele Identifier: CA3047143776

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504915_136504916delinsAG , CM000671.2:g.136504915_136504916delinsAG	GRCh38
NC_000009.11:g.139399367_139399368delinsAG , CM000671.1:g.139399367_139399368delinsAG	GRCh37
NC_000009.10:g.138519188_138519189delinsAG	NCBI36
NG_007458.1:g.45871_45872delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2582_2583delinsCT
ENST00000651671.1:c.4775_4776delinsCT MANE Select	ENSP00000498587.1:p.Phe1592Ser
ENST00000679595.1:c.4775_4776delinsCT	ENSP00000506241.1:p.Phe1592Ser
ENST00000680133.1:c.4661_4662delinsCT	ENSP00000505319.1:p.Phe1554Ser
ENST00000680218.1:c.4655_4656delinsCT	ENSP00000505339.1:p.Phe1552Ser
ENST00000680668.1:c.4661_4662delinsCT	ENSP00000506336.1:p.Phe1554Ser
ENST00000680778.1:c.2372_2373delinsCT	ENSP00000506033.1:p.Phe791Ser
ENST00000680924.1:c.*2175_*2176delinsCT	ENSP00000506031.1:n.*2175_*2176delinsCT
ENST00000681135.1:c.*2384_*2385delinsCT	ENSP00000506636.1:n.*2384_*2385delinsCT
ENST00000681298.1:n.1588_1589delinsCT
ENST00000681454.1:c.*4011_*4012delinsCT	ENSP00000505763.1:n.*4011_*4012delinsCT
ENST00000277541.6:c.4775_4776delinsCT	ENSP00000277541.6:p.Phe1592Ser
NM_017617.3:c.4775_4776delinsCT	NP_060087.3:p.Phe1592Ser
XM_011518717.1:c.4076_4077delinsCT	XP_011517019.1:p.Phe1359Ser
NM_017617.5:c.4775_4776delinsCT MANE Select	NP_060087.3:p.Phe1592Ser
XM_011518717.2:c.4052_4053delinsCT	XP_011517019.2:p.Phe1351Ser