Canonical Allele Identifier: CA2692634247

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504754-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504755_136504757del , CM000671.2:g.136504755_136504757del	GRCh38
NC_000009.11:g.139399207_139399209del , CM000671.1:g.139399207_139399209del	GRCh37
NC_000009.10:g.138519028_138519030del	NCBI36
NG_007458.1:g.46030_46032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2741_2743del
ENST00000651671.1:c.4934_4936del MANE Select	ENSP00000498587.1:p.Leu1645_Gly1646delinsArg
ENST00000679595.1:c.4934_4936del	ENSP00000506241.1:p.Leu1645_Gly1646delinsArg
ENST00000680133.1:c.4820_4822del	ENSP00000505319.1:p.Leu1607_Gly1608delinsArg
ENST00000680218.1:c.4814_4816del	ENSP00000505339.1:p.Leu1605_Gly1606delinsArg
ENST00000680668.1:c.4820_4822del	ENSP00000506336.1:p.Leu1607_Gly1608delinsArg
ENST00000680778.1:c.2531_2533del	ENSP00000506033.1:p.Leu844_Gly845delinsArg
ENST00000680924.1:c.*2334_*2336del	ENSP00000506031.1:n.*2334_*2336del
ENST00000681135.1:c.*2543_*2545del	ENSP00000506636.1:n.*2543_*2545del
ENST00000681298.1:n.1747_1749del
ENST00000681454.1:c.*4170_*4172del	ENSP00000505763.1:n.*4170_*4172del
ENST00000277541.6:c.4934_4936del	ENSP00000277541.6:p.Leu1645_Gly1646delinsArg
ENST00000494783.1:n.89_91del
NM_017617.3:c.4934_4936del	NP_060087.3:p.Leu1645_Gly1646delinsArg
XM_011518717.1:c.4235_4237del	XP_011517019.1:p.Leu1412_Gly1413delinsArg
NM_017617.5:c.4934_4936del MANE Select	NP_060087.3:p.Leu1645_Gly1646delinsArg
XM_011518717.2:c.4211_4213del	XP_011517019.2:p.Leu1404_Gly1405delinsArg