Canonical Allele Identifier: CA2695211739

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498975del , CM000671.2:g.136498975del	GRCh38
NC_000009.11:g.139393427del , CM000671.1:g.139393427del	GRCh37
NC_000009.10:g.138513248del	NCBI36
NG_007458.1:g.51813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6105del MANE Select	ENSP00000498587.1:p.Ala2036ProfsTer3
ENST00000679595.1:c.*1145del	ENSP00000506241.1:n.*1145del
ENST00000679969.1:n.2701del
ENST00000680003.1:n.2437del
ENST00000680133.1:c.5991del	ENSP00000505319.1:p.Ala1998ProfsTer3
ENST00000680218.1:c.5985del	ENSP00000505339.1:p.Ala1996ProfsTer3
ENST00000680668.1:c.5991del	ENSP00000506336.1:p.Ala1998ProfsTer3
ENST00000680778.1:c.3702del	ENSP00000506033.1:p.Ala1235ProfsTer3
ENST00000680924.1:c.*3505del	ENSP00000506031.1:n.*3505del
ENST00000681135.1:c.*3714del	ENSP00000506636.1:n.*3714del
ENST00000681298.1:n.4210del
ENST00000681454.1:c.*5341del	ENSP00000505763.1:n.*5341del
ENST00000277541.6:c.6105del	ENSP00000277541.6:p.Ala2036ProfsTer3
NM_017617.3:c.6105del	NP_060087.3:p.Ala2036ProfsTer3
XM_011518717.1:c.5406del	XP_011517019.1:p.Ala1803ProfsTer3
NM_017617.5:c.6105del MANE Select	NP_060087.3:p.Ala2036ProfsTer3
XM_011518717.2:c.5382del	XP_011517019.2:p.Ala1795ProfsTer3