Canonical Allele Identifier: CA2739264828

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2785657
• ClinVar RCV Id: RCV003748623

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504835_136504837del , CM000671.2:g.136504835_136504837del	GRCh38
NC_000009.11:g.139399287_139399289del , CM000671.1:g.139399287_139399289del	GRCh37
NC_000009.10:g.138519108_138519110del	NCBI36
NG_007458.1:g.45954_45956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2665_2667del
ENST00000651671.1:c.4858_4860del MANE Select	ENSP00000498587.1:p.Tyr1620del
ENST00000679595.1:c.4858_4860del	ENSP00000506241.1:p.Tyr1620del
ENST00000680133.1:c.4744_4746del	ENSP00000505319.1:p.Tyr1582del
ENST00000680218.1:c.4738_4740del	ENSP00000505339.1:p.Tyr1580del
ENST00000680668.1:c.4744_4746del	ENSP00000506336.1:p.Tyr1582del
ENST00000680778.1:c.2455_2457del	ENSP00000506033.1:p.Tyr819del
ENST00000680924.1:c.*2258_*2260del	ENSP00000506031.1:n.*2258_*2260del
ENST00000681135.1:c.*2467_*2469del	ENSP00000506636.1:n.*2467_*2469del
ENST00000681298.1:n.1671_1673del
ENST00000681454.1:c.*4094_*4096del	ENSP00000505763.1:n.*4094_*4096del
ENST00000277541.6:c.4858_4860del	ENSP00000277541.6:p.Tyr1620del
ENST00000494783.1:n.13_15del
NM_017617.3:c.4858_4860del	NP_060087.3:p.Tyr1620del
XM_011518717.1:c.4159_4161del	XP_011517019.1:p.Tyr1387del
NM_017617.5:c.4858_4860del MANE Select	NP_060087.3:p.Tyr1620del
XM_011518717.2:c.4135_4137del	XP_011517019.2:p.Tyr1379del