Canonical Allele Identifier: CA2692633999

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504649-C-CCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504650_136504651insCCAC , CM000671.2:g.136504650_136504651insCCAC	GRCh38
NC_000009.11:g.139399102_139399103insCCAC , CM000671.1:g.139399102_139399103insCCAC	GRCh37
NC_000009.10:g.138518923_138518924insCCAC	NCBI36
NG_007458.1:g.46137_46138insTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2825+23_2825+24insTGGG
ENST00000651671.1:c.5018+23_5018+24insTGGG MANE Select	ENSP00000498587.1:n.5018+23_5018+24insTGGG
ENST00000679595.1:c.5018+23_5018+24insTGGG	ENSP00000506241.1:n.5018+23_5018+24insTGGG
ENST00000680133.1:c.4904+23_4904+24insTGGG	ENSP00000505319.1:n.4904+23_4904+24insTGGG
ENST00000680218.1:c.4898+23_4898+24insTGGG	ENSP00000505339.1:n.4898+23_4898+24insTGGG
ENST00000680668.1:c.4904+23_4904+24insTGGG	ENSP00000506336.1:n.4904+23_4904+24insTGGG
ENST00000680778.1:c.2615+23_2615+24insTGGG	ENSP00000506033.1:n.2615+23_2615+24insTGGG
ENST00000680924.1:c.*2418+23_*2418+24insTGGG	ENSP00000506031.1:n.*2418+23_*2418+24insTGGG
ENST00000681135.1:c.*2627+23_*2627+24insTGGG	ENSP00000506636.1:n.*2627+23_*2627+24insTGGG
ENST00000681298.1:n.1831+23_1831+24insTGGG
ENST00000681454.1:c.*4254+23_*4254+24insTGGG	ENSP00000505763.1:n.*4254+23_*4254+24insTGGG
ENST00000277541.6:c.5018+23_5018+24insTGGG	ENSP00000277541.6:n.5018+23_5018+24insTGGG
ENST00000494783.1:n.173+23_173+24insTGGG
NM_017617.3:c.5018+23_5018+24insTGGG	NP_060087.3:n.5018+23_5018+24insTGGG
XM_011518717.1:c.4319+23_4319+24insTGGG	XP_011517019.1:n.4319+23_4319+24insTGGG
NM_017617.5:c.5018+23_5018+24insTGGG MANE Select	NP_060087.3:n.5018+23_5018+24insTGGG
XM_011518717.2:c.4295+23_4295+24insTGGG	XP_011517019.2:n.4295+23_4295+24insTGGG