Canonical Allele Identifier: CA645543497
Community Standard Title: NM_017617.5(NOTCH1):c.4721_4722delinsCT (p.Leu1574Pro)
Gene: NOTCH1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504969_136504970delinsAG , CM000671.2:g.136504969_136504970delinsAG GRCh38
NC_000009.11:g.139399421_139399422delinsAG , CM000671.1:g.139399421_139399422delinsAG GRCh37
NC_000009.10:g.138519242_138519243delinsAG NCBI36
NG_007458.1:g.45817_45818delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4721_4722delinsCT MANE Select NP_060087.3:p.Leu1574Pro
ENST00000651671.1:c.4721_4722delinsCT MANE Select ENSP00000498587.1:p.Leu1574Pro
NM_017617.3:c.4721_4722delinsCT NP_060087.3:p.Leu1574Pro
ENST00000277541.6:c.4721_4722delinsCT ENSP00000277541.6:p.Leu1574Pro
ENST00000645828.1:n.2528_2529delinsCT
ENST00000679595.1:c.4721_4722delinsCT ENSP00000506241.1:p.Leu1574Pro
ENST00000680133.1:c.4607_4608delinsCT ENSP00000505319.1:p.Leu1536Pro
ENST00000680218.1:c.4601_4602delinsCT ENSP00000505339.1:p.Leu1534Pro
ENST00000680668.1:c.4607_4608delinsCT ENSP00000506336.1:p.Leu1536Pro
ENST00000680778.1:c.2318_2319delinsCT ENSP00000506033.1:p.Leu773Pro
ENST00000680924.1:c.*2121_*2122delinsCT ENSP00000506031.1:n.*2121_*2122delinsCT
ENST00000681135.1:c.*2330_*2331delinsCT ENSP00000506636.1:n.*2330_*2331delinsCT
ENST00000681298.1:n.1534_1535delinsCT
ENST00000681454.1:c.*3957_*3958delinsCT ENSP00000505763.1:n.*3957_*3958delinsCT
XM_011518717.1:c.4022_4023delinsCT XP_011517019.1:p.Leu1341Pro
XM_011518717.2:c.3998_3999delinsCT XP_011517019.2:p.Leu1333Pro
Search 100 bp 5'
Search 100 bp 3'