Canonical Allele Identifier: CA3165921500
Community Standard Title: NM_017617.5(NOTCH1):c.2588-2A=
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136510807T= , CM000671.2:g.136510807T= GRCh38
NC_000009.11:g.139405259T= , CM000671.1:g.139405259T= GRCh37
NC_000009.10:g.138525080T= NCBI36
NG_007458.1:g.39980A=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.2588-2A= MANE Select NP_060087.3:n.2588-2A=
ENST00000651671.1:c.2588-2A= MANE Select ENSP00000498587.1:n.2588-2A=
NM_017617.3:c.2588-2A= NP_060087.3:n.2588-2A=
ENST00000277541.6:c.2588-2A= ENSP00000277541.6:n.2588-2A=
ENST00000645828.1:n.395-2A=
ENST00000646957.2:n.211-2A=
ENST00000679595.1:c.2588-2A= ENSP00000506241.1:n.2588-2A=
ENST00000680133.1:c.2474-2A= ENSP00000505319.1:n.2474-2A=
ENST00000680218.1:c.2588-2A= ENSP00000505339.1:n.2588-2A=
ENST00000680668.1:c.2474-2A= ENSP00000506336.1:n.2474-2A=
ENST00000680778.1:c.185-2A= ENSP00000506033.1:n.185-2A=
ENST00000680924.1:c.2588-7A= ENSP00000506031.1:n.2588-7A=
ENST00000681135.1:c.*197-2A= ENSP00000506636.1:n.*197-2A=
ENST00000681454.1:c.*1824-2A= ENSP00000505763.1:n.*1824-2A=
XM_011518717.1:c.1889-2A= XP_011517019.1:n.1889-2A=
XM_011518717.2:c.1865-2A= XP_011517019.2:n.1865-2A=