Canonical Allele Identifier: CA161155

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136513480_136513482del , CM000671.2:g.136513480_136513482del	GRCh38
NC_000009.11:g.139407932_139407934del , CM000671.1:g.139407932_139407934del	GRCh37
NC_000009.10:g.138527753_138527755del	NCBI36
NG_007458.1:g.37305_37307del

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.2263_2265del MANE Select	NP_060087.3:p.Asn755del
ENST00000651671.1:c.2263_2265del MANE Select	ENSP00000498587.1:p.Asn755del
NM_017617.3:c.2263_2265del	NP_060087.3:p.Asn755del
ENST00000277541.6:c.2263_2265del	ENSP00000277541.6:p.Asn755del
ENST00000645828.1:n.70_72del
ENST00000679595.1:c.2263_2265del	ENSP00000506241.1:p.Asn755del
ENST00000680133.1:c.2149_2151del	ENSP00000505319.1:p.Asn717del
ENST00000680218.1:c.2263_2265del	ENSP00000505339.1:p.Asn755del
ENST00000680668.1:c.2149_2151del	ENSP00000506336.1:p.Asn717del
ENST00000680924.1:c.2263_2265del	ENSP00000506031.1:p.Asn755del
ENST00000681135.1:c.2263_2265del	ENSP00000506636.1:p.Asn755del
ENST00000681454.1:c.*1499_*1501del	ENSP00000505763.1:n.*1499_*1501del
XM_011518717.1:c.1564_1566del	XP_011517019.1:p.Asn522del
XM_011518717.2:c.1540_1542del	XP_011517019.2:p.Asn514del