Canonical Allele Identifier: CA645543427

Gene: NOTCH1

Linked Data

• COSMIC: COSM5546604

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504883_136504885dup , CM000671.2:g.136504883_136504885dup	GRCh38
NC_000009.11:g.139399335_139399337dup , CM000671.1:g.139399335_139399337dup	GRCh37
NC_000009.10:g.138519156_138519158dup	NCBI36
NG_007458.1:g.45903_45905dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2614_2616dup
ENST00000651671.1:c.4807_4809dup MANE Select	ENSP00000498587.1:p.Asn1603_Val1604insAsn
ENST00000679595.1:c.4807_4809dup	ENSP00000506241.1:p.Asn1603_Val1604insAsn
ENST00000680133.1:c.4693_4695dup	ENSP00000505319.1:p.Asn1565_Val1566insAsn
ENST00000680218.1:c.4687_4689dup	ENSP00000505339.1:p.Asn1563_Val1564insAsn
ENST00000680668.1:c.4693_4695dup	ENSP00000506336.1:p.Asn1565_Val1566insAsn
ENST00000680778.1:c.2404_2406dup	ENSP00000506033.1:p.Asn802_Val803insAsn
ENST00000680924.1:c.*2207_*2209dup	ENSP00000506031.1:n.*2207_*2209dup
ENST00000681135.1:c.*2416_*2418dup	ENSP00000506636.1:n.*2416_*2418dup
ENST00000681298.1:n.1620_1622dup
ENST00000681454.1:c.*4043_*4045dup	ENSP00000505763.1:n.*4043_*4045dup
ENST00000277541.6:c.4807_4809dup	ENSP00000277541.6:p.Asn1603_Val1604insAsn
NM_017617.3:c.4807_4809dup	NP_060087.3:p.Asn1603_Val1604insAsn
XM_011518717.1:c.4108_4110dup	XP_011517019.1:p.Asn1370_Val1371insAsn
NM_017617.5:c.4807_4809dup MANE Select	NP_060087.3:p.Asn1603_Val1604insAsn
XM_011518717.2:c.4084_4086dup	XP_011517019.2:p.Asn1362_Val1363insAsn