Canonical Allele Identifier: CA2580615408

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2442812
• ClinVar RCV Id: RCV003150618

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504789_136504791del , CM000671.2:g.136504789_136504791del	GRCh38
NC_000009.11:g.139399241_139399243del , CM000671.1:g.139399241_139399243del	GRCh37
NC_000009.10:g.138519062_138519064del	NCBI36
NG_007458.1:g.46000_46002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2711_2713del
ENST00000651671.1:c.4904_4906del MANE Select	ENSP00000498587.1:p.Ala1635del
ENST00000679595.1:c.4904_4906del	ENSP00000506241.1:p.Ala1635del
ENST00000680133.1:c.4790_4792del	ENSP00000505319.1:p.Ala1597del
ENST00000680218.1:c.4784_4786del	ENSP00000505339.1:p.Ala1595del
ENST00000680668.1:c.4790_4792del	ENSP00000506336.1:p.Ala1597del
ENST00000680778.1:c.2501_2503del	ENSP00000506033.1:p.Ala834del
ENST00000680924.1:c.*2304_*2306del	ENSP00000506031.1:n.*2304_*2306del
ENST00000681135.1:c.*2513_*2515del	ENSP00000506636.1:n.*2513_*2515del
ENST00000681298.1:n.1717_1719del
ENST00000681454.1:c.*4140_*4142del	ENSP00000505763.1:n.*4140_*4142del
ENST00000277541.6:c.4904_4906del	ENSP00000277541.6:p.Ala1635del
ENST00000494783.1:n.59_61del
NM_017617.3:c.4904_4906del	NP_060087.3:p.Ala1635del
XM_011518717.1:c.4205_4207del	XP_011517019.1:p.Ala1402del
NM_017617.5:c.4904_4906del MANE Select	NP_060087.3:p.Ala1635del
XM_011518717.2:c.4181_4183del	XP_011517019.2:p.Ala1394del