Canonical Allele Identifier: CA3047143758
Community Standard Title: NM_017617.5(NOTCH1):c.4847delinsCGCCTAA (p.Ile1616delinsThrProAsn)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504844delinsTTAGGCG , CM000671.2:g.136504844delinsTTAGGCG GRCh38
NC_000009.11:g.139399296delinsTTAGGCG , CM000671.1:g.139399296delinsTTAGGCG GRCh37
NC_000009.10:g.138519117delinsTTAGGCG NCBI36
NG_007458.1:g.45943delinsCGCCTAA

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4847delinsCGCCTAA MANE Select NP_060087.3:p.Ile1616delinsThrProAsn
ENST00000651671.1:c.4847delinsCGCCTAA MANE Select ENSP00000498587.1:p.Ile1616delinsThrProAsn
NM_017617.3:c.4847delinsCGCCTAA NP_060087.3:p.Ile1616delinsThrProAsn
ENST00000277541.6:c.4847delinsCGCCTAA ENSP00000277541.6:p.Ile1616delinsThrProAsn
ENST00000494783.1:n.2delinsCGCCTAA
ENST00000645828.1:n.2654delinsCGCCTAA
ENST00000679595.1:c.4847delinsCGCCTAA ENSP00000506241.1:p.Ile1616delinsThrProAsn
ENST00000680133.1:c.4733delinsCGCCTAA ENSP00000505319.1:p.Ile1578delinsThrProAsn
ENST00000680218.1:c.4727delinsCGCCTAA ENSP00000505339.1:p.Ile1576delinsThrProAsn
ENST00000680668.1:c.4733delinsCGCCTAA ENSP00000506336.1:p.Ile1578delinsThrProAsn
ENST00000680778.1:c.2444delinsCGCCTAA ENSP00000506033.1:p.Ile815delinsThrProAsn
ENST00000680924.1:c.*2247delinsCGCCTAA ENSP00000506031.1:n.*2247delinsCGCCTAA
ENST00000681135.1:c.*2456delinsCGCCTAA ENSP00000506636.1:n.*2456delinsCGCCTAA
ENST00000681298.1:n.1660delinsCGCCTAA
ENST00000681454.1:c.*4083delinsCGCCTAA ENSP00000505763.1:n.*4083delinsCGCCTAA
XM_011518717.1:c.4148delinsCGCCTAA XP_011517019.1:p.Ile1383delinsThrProAsn
XM_011518717.2:c.4124delinsCGCCTAA XP_011517019.2:p.Ile1375delinsThrProAsn