Canonical Allele Identifier: CA2692634251

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504878-CCACGTTGGTGTGCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504883_136504897del , CM000671.2:g.136504883_136504897del	GRCh38
NC_000009.11:g.139399335_139399349del , CM000671.1:g.139399335_139399349del	GRCh37
NC_000009.10:g.138519156_138519170del	NCBI36
NG_007458.1:g.45894_45908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2605_2619del
ENST00000651671.1:c.4798_4812del MANE Select	ENSP00000498587.1:p.Leu1600_Val1604del
ENST00000679595.1:c.4798_4812del	ENSP00000506241.1:p.Leu1600_Val1604del
ENST00000680133.1:c.4684_4698del	ENSP00000505319.1:p.Leu1562_Val1566del
ENST00000680218.1:c.4678_4692del	ENSP00000505339.1:p.Leu1560_Val1564del
ENST00000680668.1:c.4684_4698del	ENSP00000506336.1:p.Leu1562_Val1566del
ENST00000680778.1:c.2395_2409del	ENSP00000506033.1:p.Leu799_Val803del
ENST00000680924.1:c.*2198_*2212del	ENSP00000506031.1:n.*2198_*2212del
ENST00000681135.1:c.*2407_*2421del	ENSP00000506636.1:n.*2407_*2421del
ENST00000681298.1:n.1611_1625del
ENST00000681454.1:c.*4034_*4048del	ENSP00000505763.1:n.*4034_*4048del
ENST00000277541.6:c.4798_4812del	ENSP00000277541.6:p.Leu1600_Val1604del
NM_017617.3:c.4798_4812del	NP_060087.3:p.Leu1600_Val1604del
XM_011518717.1:c.4099_4113del	XP_011517019.1:p.Leu1367_Val1371del
NM_017617.5:c.4798_4812del MANE Select	NP_060087.3:p.Leu1600_Val1604del
XM_011518717.2:c.4075_4089del	XP_011517019.2:p.Leu1359_Val1363del