Canonical Allele Identifier: CA2497273467

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1206129360
• gnomAD v4: 9-136518116-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518121del , CM000671.2:g.136518121del	GRCh38
NC_000009.11:g.139412573del , CM000671.1:g.139412573del	GRCh37
NC_000009.10:g.138532394del	NCBI36
NG_007458.1:g.32670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1255+20del MANE Select	ENSP00000498587.1:n.1255+20del
ENST00000679595.1:c.1255+20del	ENSP00000506241.1:n.1255+20del
ENST00000680133.1:c.1255+20del	ENSP00000505319.1:n.1255+20del
ENST00000680218.1:c.1255+20del	ENSP00000505339.1:n.1255+20del
ENST00000680668.1:c.1255+20del	ENSP00000506336.1:n.1255+20del
ENST00000680924.1:c.1255+20del	ENSP00000506031.1:n.1255+20del
ENST00000681135.1:c.1255+20del	ENSP00000506636.1:n.1255+20del
ENST00000681454.1:c.*491+20del	ENSP00000505763.1:n.*491+20del
ENST00000277541.6:c.1255+20del	ENSP00000277541.6:n.1255+20del
NM_017617.3:c.1255+20del	NP_060087.3:n.1255+20del
XM_011518717.1:c.556+20del	XP_011517019.1:n.556+20del
NM_017617.5:c.1255+20del MANE Select	NP_060087.3:n.1255+20del
XM_011518717.2:c.532+20del	XP_011517019.2:n.532+20del