Canonical Allele Identifier: CA2692636219

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136511245-G-GGGCCAGCACCACCTCACACGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511249_136511269dup , CM000671.2:g.136511249_136511269dup	GRCh38
NC_000009.11:g.139405701_139405721dup , CM000671.1:g.139405701_139405721dup	GRCh37
NC_000009.10:g.138525522_138525542dup	NCBI36
NG_007458.1:g.39521_39541dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.280_300dup
ENST00000646957.2:n.96_116dup
ENST00000651671.1:c.2473_2493dup MANE Select	ENSP00000498587.1:p.Ala831_Pro832insThrCy...
ENST00000679595.1:c.2473_2493dup	ENSP00000506241.1:p.Ala831_Pro832insThrCy...
ENST00000680133.1:c.2359_2379dup	ENSP00000505319.1:p.Ala793_Pro794insThrCy...
ENST00000680218.1:c.2473_2493dup	ENSP00000505339.1:p.Ala831_Pro832insThrCy...
ENST00000680668.1:c.2359_2379dup	ENSP00000506336.1:p.Ala793_Pro794insThrCy...
ENST00000680778.1:c.70_90dup	ENSP00000506033.1:p.Ala30_Pro31insThrCysG...
ENST00000680924.1:c.2473_2493dup	ENSP00000506031.1:p.Ala831_Pro832insThrCy...
ENST00000681135.1:c.*82_*102dup	ENSP00000506636.1:n.*82_*102dup
ENST00000681454.1:c.*1709_*1729dup	ENSP00000505763.1:n.*1709_*1729dup
ENST00000277541.6:c.2473_2493dup	ENSP00000277541.6:p.Ala831_Pro832insThrCy...
NM_017617.3:c.2473_2493dup	NP_060087.3:p.Ala831_Pro832insThrCysGluVa...
XM_011518717.1:c.1774_1794dup	XP_011517019.1:p.Ala598_Pro599insThrCysGl...
NM_017617.5:c.2473_2493dup MANE Select	NP_060087.3:p.Ala831_Pro832insThrCysGluVa...
XM_011518717.2:c.1750_1770dup	XP_011517019.2:p.Ala590_Pro591insThrCysGl...