Canonical Allele Identifier: CA645544342

Gene: NOTCH1

Linked Data

• COSMIC: COSM255088

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136496895_136497257del , CM000671.2:g.136496895_136497257del	GRCh38
NC_000009.11:g.139391347_139391709del , CM000671.1:g.139391347_139391709del	GRCh37
NC_000009.10:g.138511168_138511530del	NCBI36
NG_007458.1:g.53536_53898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6488_6850del MANE Select	ENSP00000498587.1:p.Ser2163_Ser2283del
ENST00000679595.1:c.*1528_*1890del	ENSP00000506241.1:n.*1528_*1890del
ENST00000679969.1:n.3084_3446del
ENST00000680003.1:n.2820_3182del
ENST00000680133.1:c.6374_6736del	ENSP00000505319.1:p.Ser2125_Ser2245del
ENST00000680218.1:c.6368_6730del	ENSP00000505339.1:p.Ser2123_Ser2243del
ENST00000680668.1:c.6374_6736del	ENSP00000506336.1:p.Ser2125_Ser2245del
ENST00000680778.1:c.4085_4447del	ENSP00000506033.1:p.Ser1362_Ser1482del
ENST00000680924.1:c.*3888_*4250del	ENSP00000506031.1:n.*3888_*4250del
ENST00000681135.1:c.*4097_*4459del	ENSP00000506636.1:n.*4097_*4459del
ENST00000681298.1:n.4593_4955del
ENST00000681454.1:c.*5724_*6086del	ENSP00000505763.1:n.*5724_*6086del
ENST00000277541.6:c.6488_6850del	ENSP00000277541.6:p.Ser2163_Ser2283del
NM_017617.3:c.6488_6850del	NP_060087.3:p.Ser2163_Ser2283del
XM_011518717.1:c.5789_6151del	XP_011517019.1:p.Ser1930_Ser2050del
NM_017617.5:c.6488_6850del MANE Select	NP_060087.3:p.Ser2163_Ser2283del
XM_011518717.2:c.5765_6127del	XP_011517019.2:p.Ser1922_Ser2042del