Canonical Allele Identifier: CA1884231142

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497154_136497155delinsGC , CM000671.2:g.136497154_136497155delinsGC	GRCh38
NC_000009.11:g.139391606_139391607delinsGC , CM000671.1:g.139391606_139391607delinsGC	GRCh37
NC_000009.10:g.138511427_138511428delinsGC	NCBI36
NG_007458.1:g.53632_53633delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6584_6585delinsGC MANE Select	ENSP00000498587.1:p.Gly2195=
ENST00000679595.1:c.*1624_*1625delinsGC	ENSP00000506241.1:n.*1624_*1625delinsGC
ENST00000679969.1:n.3180_3181delinsGC
ENST00000680003.1:n.2916_2917delinsGC
ENST00000680133.1:c.6470_6471delinsGC	ENSP00000505319.1:p.Gly2157=
ENST00000680218.1:c.6464_6465delinsGC	ENSP00000505339.1:p.Gly2155=
ENST00000680668.1:c.6470_6471delinsGC	ENSP00000506336.1:p.Gly2157=
ENST00000680778.1:c.4181_4182delinsGC	ENSP00000506033.1:p.Gly1394=
ENST00000680924.1:c.*3984_*3985delinsGC	ENSP00000506031.1:n.*3984_*3985delinsGC
ENST00000681135.1:c.*4193_*4194delinsGC	ENSP00000506636.1:n.*4193_*4194delinsGC
ENST00000681298.1:n.4689_4690delinsGC
ENST00000681454.1:c.*5820_*5821delinsGC	ENSP00000505763.1:n.*5820_*5821delinsGC
ENST00000277541.6:c.6584_6585delinsGC	ENSP00000277541.6:p.Gly2195=
NM_017617.3:c.6584_6585delinsGC	NP_060087.3:p.Gly2195=
XM_011518717.1:c.5885_5886delinsGC	XP_011517019.1:p.Gly1962=
NM_017617.5:c.6584_6585delinsGC MANE Select	NP_060087.3:p.Gly2195=
XM_011518717.2:c.5861_5862delinsGC	XP_011517019.2:p.Gly1954=