Canonical Allele Identifier: CA645543417
Gene: NOTCH1 HGNC NCBI

Linked Data

COSMIC: COSM1166936
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504874_136504878delinsGGTTTGGGGTATAG , CM000671.2:g.136504874_136504878delinsGGTTTGGGGTATAG GRCh38
NC_000009.11:g.139399326_139399330delinsGGTTTGGGGTATAG , CM000671.1:g.139399326_139399330delinsGGTTTGGGGTATAG GRCh37
NC_000009.10:g.138519147_138519151delinsGGTTTGGGGTATAG NCBI36
NG_007458.1:g.45909_45913delinsCTATACCCCAAACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.2620_2624delinsCTATACCCCAAACC
ENST00000651671.1:c.4813_4817delinsCTATACCCCAAACC MANE Select ENSP00000498587.1:p.Val1605_Phe1606delinsLeuTyrProLysPro
ENST00000679595.1:c.4813_4817delinsCTATACCCCAAACC ENSP00000506241.1:p.Val1605_Phe1606delinsLeuTyrProLysPro
ENST00000680133.1:c.4699_4703delinsCTATACCCCAAACC ENSP00000505319.1:p.Val1567_Phe1568delinsLeuTyrProLysPro
ENST00000680218.1:c.4693_4697delinsCTATACCCCAAACC ENSP00000505339.1:p.Val1565_Phe1566delinsLeuTyrProLysPro
ENST00000680668.1:c.4699_4703delinsCTATACCCCAAACC ENSP00000506336.1:p.Val1567_Phe1568delinsLeuTyrProLysPro
ENST00000680778.1:c.2410_2414delinsCTATACCCCAAACC ENSP00000506033.1:p.Val804_Phe805delinsLeuTyrProLysPro
ENST00000680924.1:c.*2213_*2217delinsCTATACCCCAAACC ENSP00000506031.1:n.*2213_*2217delinsCTATACCCCAAACC
ENST00000681135.1:c.*2422_*2426delinsCTATACCCCAAACC ENSP00000506636.1:n.*2422_*2426delinsCTATACCCCAAACC
ENST00000681298.1:n.1626_1630delinsCTATACCCCAAACC
ENST00000681454.1:c.*4049_*4053delinsCTATACCCCAAACC ENSP00000505763.1:n.*4049_*4053delinsCTATACCCCAAACC
ENST00000277541.6:c.4813_4817delinsCTATACCCCAAACC ENSP00000277541.6:p.Val1605_Phe1606delinsLeuTyrProLysPro
NM_017617.3:c.4813_4817delinsCTATACCCCAAACC NP_060087.3:p.Val1605_Phe1606delinsLeuTyrProLysPro
XM_011518717.1:c.4114_4118delinsCTATACCCCAAACC XP_011517019.1:p.Val1372_Phe1373delinsLeuTyrProLysPro
NM_017617.5:c.4813_4817delinsCTATACCCCAAACC MANE Select NP_060087.3:p.Val1605_Phe1606delinsLeuTyrProLysPro
XM_011518717.2:c.4090_4094delinsCTATACCCCAAACC XP_011517019.2:p.Val1364_Phe1365delinsLeuTyrProLysPro
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