Canonical Allele Identifier: CA591181394

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2743268
• ClinVar RCV Id: RCV003587553
• dbSNP Id: rs1564190275
• gnomAD v2: 9-139399184-GAGC-G
• gnomAD v4: 9-136504732-GAGC-G
• MyVariant Identifiers: chr9:g.139399185_139399187del (hg19) ; chr9:g.136504733_136504735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504736_136504738del , CM000671.2:g.136504736_136504738del	GRCh38
NC_000009.11:g.139399188_139399190del , CM000671.1:g.139399188_139399190del	GRCh37
NC_000009.10:g.138519009_138519011del	NCBI36
NG_007458.1:g.46052_46054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2763_2765del
ENST00000651671.1:c.4956_4958del MANE Select	ENSP00000498587.1:p.Leu1653del
ENST00000679595.1:c.4956_4958del	ENSP00000506241.1:p.Leu1653del
ENST00000680133.1:c.4842_4844del	ENSP00000505319.1:p.Leu1615del
ENST00000680218.1:c.4836_4838del	ENSP00000505339.1:p.Leu1613del
ENST00000680668.1:c.4842_4844del	ENSP00000506336.1:p.Leu1615del
ENST00000680778.1:c.2553_2555del	ENSP00000506033.1:p.Leu852del
ENST00000680924.1:c.*2356_*2358del	ENSP00000506031.1:n.*2356_*2358del
ENST00000681135.1:c.*2565_*2567del	ENSP00000506636.1:n.*2565_*2567del
ENST00000681298.1:n.1769_1771del
ENST00000681454.1:c.*4192_*4194del	ENSP00000505763.1:n.*4192_*4194del
ENST00000277541.6:c.4956_4958del	ENSP00000277541.6:p.Leu1653del
ENST00000494783.1:n.111_113del
NM_017617.3:c.4956_4958del	NP_060087.3:p.Leu1653del
XM_011518717.1:c.4257_4259del	XP_011517019.1:p.Leu1420del
NM_017617.5:c.4956_4958del MANE Select	NP_060087.3:p.Leu1653del
XM_011518717.2:c.4233_4235del	XP_011517019.2:p.Leu1412del