Canonical Allele Identifier: CA2786272920

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497159_136497176del , CM000671.2:g.136497159_136497176del	GRCh38
NC_000009.11:g.139391611_139391628del , CM000671.1:g.139391611_139391628del	GRCh37
NC_000009.10:g.138511432_138511449del	NCBI36
NG_007458.1:g.53611_53628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6563_6580del MANE Select	ENSP00000498587.1:p.Gly2188_Ser2194delinsAla
ENST00000679595.1:c.*1603_*1620del	ENSP00000506241.1:n.*1603_*1620del
ENST00000679969.1:n.3159_3176del
ENST00000680003.1:n.2895_2912del
ENST00000680133.1:c.6449_6466del	ENSP00000505319.1:p.Gly2150_Ser2156delinsAla
ENST00000680218.1:c.6443_6460del	ENSP00000505339.1:p.Gly2148_Ser2154delinsAla
ENST00000680668.1:c.6449_6466del	ENSP00000506336.1:p.Gly2150_Ser2156delinsAla
ENST00000680778.1:c.4160_4177del	ENSP00000506033.1:p.Gly1387_Ser1393delinsAla
ENST00000680924.1:c.*3963_*3980del	ENSP00000506031.1:n.*3963_*3980del
ENST00000681135.1:c.*4172_*4189del	ENSP00000506636.1:n.*4172_*4189del
ENST00000681298.1:n.4668_4685del
ENST00000681454.1:c.*5799_*5816del	ENSP00000505763.1:n.*5799_*5816del
ENST00000277541.6:c.6563_6580del	ENSP00000277541.6:p.Gly2188_Ser2194delinsAla
NM_017617.3:c.6563_6580del	NP_060087.3:p.Gly2188_Ser2194delinsAla
XM_011518717.1:c.5864_5881del	XP_011517019.1:p.Gly1955_Ser1961delinsAla
NM_017617.5:c.6563_6580del MANE Select	NP_060087.3:p.Gly2188_Ser2194delinsAla
XM_011518717.2:c.5840_5857del	XP_011517019.2:p.Gly1947_Ser1953delinsAla