Canonical Allele Identifier: CA2692632850

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497346-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497352dup , CM000671.2:g.136497352dup	GRCh38
NC_000009.11:g.139391804dup , CM000671.1:g.139391804dup	GRCh37
NC_000009.10:g.138511625dup	NCBI36
NG_007458.1:g.53440dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6392dup MANE Select	ENSP00000498587.1:p.Thr2132HisfsTer?
ENST00000679595.1:c.*1432dup	ENSP00000506241.1:n.*1432dup
ENST00000679969.1:n.2988dup
ENST00000680003.1:n.2724dup
ENST00000680133.1:c.6278dup	ENSP00000505319.1:p.Thr2094HisfsTer?
ENST00000680218.1:c.6272dup	ENSP00000505339.1:p.Thr2092HisfsTer?
ENST00000680668.1:c.6278dup	ENSP00000506336.1:p.Thr2094HisfsTer?
ENST00000680778.1:c.3989dup	ENSP00000506033.1:p.Thr1331HisfsTer?
ENST00000680924.1:c.*3792dup	ENSP00000506031.1:n.*3792dup
ENST00000681135.1:c.*4001dup	ENSP00000506636.1:n.*4001dup
ENST00000681298.1:n.4497dup
ENST00000681454.1:c.*5628dup	ENSP00000505763.1:n.*5628dup
ENST00000277541.6:c.6392dup	ENSP00000277541.6:p.Thr2132HisfsTer?
NM_017617.3:c.6392dup	NP_060087.3:p.Thr2132HisfsTer?
XM_011518717.1:c.5693dup	XP_011517019.1:p.Thr1899HisfsTer?
NM_017617.5:c.6392dup MANE Select	NP_060087.3:p.Thr2132HisfsTer?
XM_011518717.2:c.5669dup	XP_011517019.2:p.Thr1891HisfsTer?