Canonical Allele Identifier: CA591366858

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1250775564
• gnomAD v2: 9-139391606-GC-G
• MyVariant Identifiers: chr9:g.139391607del (hg19) ; chr9:g.136497155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497156del , CM000671.2:g.136497156del	GRCh38
NC_000009.11:g.139391608del , CM000671.1:g.139391608del	GRCh37
NC_000009.10:g.138511429del	NCBI36
NG_007458.1:g.53632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6584del MANE Select	ENSP00000498587.1:p.Gly2195AlafsTer?
ENST00000679595.1:c.*1624del	ENSP00000506241.1:n.*1624del
ENST00000679969.1:n.3180del
ENST00000680003.1:n.2916del
ENST00000680133.1:c.6470del	ENSP00000505319.1:p.Gly2157AlafsTer?
ENST00000680218.1:c.6464del	ENSP00000505339.1:p.Gly2155AlafsTer?
ENST00000680668.1:c.6470del	ENSP00000506336.1:p.Gly2157AlafsTer?
ENST00000680778.1:c.4181del	ENSP00000506033.1:p.Gly1394AlafsTer?
ENST00000680924.1:c.*3984del	ENSP00000506031.1:n.*3984del
ENST00000681135.1:c.*4193del	ENSP00000506636.1:n.*4193del
ENST00000681298.1:n.4689del
ENST00000681454.1:c.*5820del	ENSP00000505763.1:n.*5820del
ENST00000277541.6:c.6584del	ENSP00000277541.6:p.Gly2195AlafsTer?
NM_017617.3:c.6584del	NP_060087.3:p.Gly2195AlafsTer?
XM_011518717.1:c.5885del	XP_011517019.1:p.Gly1962AlafsTer?
NM_017617.5:c.6584del MANE Select	NP_060087.3:p.Gly2195AlafsTer?
XM_011518717.2:c.5861del	XP_011517019.2:p.Gly1954AlafsTer?