Canonical Allele Identifier: CA2692633695

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136499139-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499143_136499144del , CM000671.2:g.136499143_136499144del	GRCh38
NC_000009.11:g.139393595_139393596del , CM000671.1:g.139393595_139393596del	GRCh37
NC_000009.10:g.138513416_138513417del	NCBI36
NG_007458.1:g.51646_51647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6053_6054del MANE Select	ENSP00000498587.1:p.His2018ArgfsTer8
ENST00000679595.1:c.*1093_*1094del	ENSP00000506241.1:n.*1093_*1094del
ENST00000679969.1:n.2534_2535del
ENST00000680003.1:n.2385_2386del
ENST00000680133.1:c.5939_5940del	ENSP00000505319.1:p.His1980ArgfsTer8
ENST00000680218.1:c.5933_5934del	ENSP00000505339.1:p.His1978ArgfsTer8
ENST00000680668.1:c.5939_5940del	ENSP00000506336.1:p.His1980ArgfsTer8
ENST00000680778.1:c.3650_3651del	ENSP00000506033.1:p.His1217ArgfsTer8
ENST00000680924.1:c.*3453_*3454del	ENSP00000506031.1:n.*3453_*3454del
ENST00000681135.1:c.*3662_*3663del	ENSP00000506636.1:n.*3662_*3663del
ENST00000681298.1:n.4158_4159del
ENST00000681454.1:c.*5289_*5290del	ENSP00000505763.1:n.*5289_*5290del
ENST00000277541.6:c.6053_6054del	ENSP00000277541.6:p.His2018ArgfsTer8
NM_017617.3:c.6053_6054del	NP_060087.3:p.His2018ArgfsTer8
XM_011518717.1:c.5354_5355del	XP_011517019.1:p.His1785ArgfsTer8
NM_017617.5:c.6053_6054del MANE Select	NP_060087.3:p.His2018ArgfsTer8
XM_011518717.2:c.5330_5331del	XP_011517019.2:p.His1777ArgfsTer8