Canonical Allele Identifier: CA645544343
Community Standard Title: NM_017617.5(NOTCH1):c.6821_6822insT (p.His2275ProfsTer?)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136496917_136496918insA , CM000671.2:g.136496917_136496918insA GRCh38
NC_000009.11:g.139391369_139391370insA , CM000671.1:g.139391369_139391370insA GRCh37
NC_000009.10:g.138511190_138511191insA NCBI36
NG_007458.1:g.53869_53870insT

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.6821_6822insT MANE Select NP_060087.3:p.His2275ProfsTer?
ENST00000651671.1:c.6821_6822insT MANE Select ENSP00000498587.1:p.His2275ProfsTer?
NM_017617.3:c.6821_6822insT NP_060087.3:p.His2275ProfsTer?
ENST00000277541.6:c.6821_6822insT ENSP00000277541.6:p.His2275ProfsTer?
ENST00000679595.1:c.*1861_*1862insT ENSP00000506241.1:n.*1861_*1862insT
ENST00000679969.1:n.3417_3418insT
ENST00000680003.1:n.3153_3154insT
ENST00000680133.1:c.6707_6708insT ENSP00000505319.1:p.His2237ProfsTer?
ENST00000680218.1:c.6701_6702insT ENSP00000505339.1:p.His2235ProfsTer?
ENST00000680668.1:c.6707_6708insT ENSP00000506336.1:p.His2237ProfsTer?
ENST00000680778.1:c.4418_4419insT ENSP00000506033.1:p.His1474ProfsTer?
ENST00000680924.1:c.*4221_*4222insT ENSP00000506031.1:n.*4221_*4222insT
ENST00000681135.1:c.*4430_*4431insT ENSP00000506636.1:n.*4430_*4431insT
ENST00000681298.1:n.4926_4927insT
ENST00000681454.1:c.*6057_*6058insT ENSP00000505763.1:n.*6057_*6058insT
XM_011518717.1:c.6122_6123insT XP_011517019.1:p.His2042ProfsTer?
XM_011518717.2:c.6098_6099insT XP_011517019.2:p.His2034ProfsTer?
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