Canonical Allele Identifier: CA645543368

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504701-TCCG-T
• COSMIC: COSM308603

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504710_136504712del , CM000671.2:g.136504710_136504712del	GRCh38
NC_000009.11:g.139399162_139399164del , CM000671.1:g.139399162_139399164del	GRCh37
NC_000009.10:g.138518983_138518985del	NCBI36
NG_007458.1:g.46083_46085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2794_2796del
ENST00000651671.1:c.4987_4989del MANE Select	ENSP00000498587.1:p.Arg1663del
ENST00000679595.1:c.4987_4989del	ENSP00000506241.1:p.Arg1663del
ENST00000680133.1:c.4873_4875del	ENSP00000505319.1:p.Arg1625del
ENST00000680218.1:c.4867_4869del	ENSP00000505339.1:p.Arg1623del
ENST00000680668.1:c.4873_4875del	ENSP00000506336.1:p.Arg1625del
ENST00000680778.1:c.2584_2586del	ENSP00000506033.1:p.Arg862del
ENST00000680924.1:c.*2387_*2389del	ENSP00000506031.1:n.*2387_*2389del
ENST00000681135.1:c.*2596_*2598del	ENSP00000506636.1:n.*2596_*2598del
ENST00000681298.1:n.1800_1802del
ENST00000681454.1:c.*4223_*4225del	ENSP00000505763.1:n.*4223_*4225del
ENST00000277541.6:c.4987_4989del	ENSP00000277541.6:p.Arg1663del
ENST00000494783.1:n.142_144del
NM_017617.3:c.4987_4989del	NP_060087.3:p.Arg1663del
XM_011518717.1:c.4288_4290del	XP_011517019.1:p.Arg1430del
NM_017617.5:c.4987_4989del MANE Select	NP_060087.3:p.Arg1663del
XM_011518717.2:c.4264_4266del	XP_011517019.2:p.Arg1422del