Canonical Allele Identifier: CA2721108881

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335742

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504700del , CM000671.2:g.136504700del	GRCh38
NC_000009.11:g.139399152del , CM000671.1:g.139399152del	GRCh37
NC_000009.10:g.138518973del	NCBI36
NG_007458.1:g.46089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2800del
ENST00000651671.1:c.4993del MANE Select	ENSP00000498587.1:p.Glu1665SerfsTer?
ENST00000679595.1:c.4993del	ENSP00000506241.1:p.Glu1665SerfsTer?
ENST00000680133.1:c.4879del	ENSP00000505319.1:p.Glu1627SerfsTer?
ENST00000680218.1:c.4873del	ENSP00000505339.1:p.Glu1625SerfsTer?
ENST00000680668.1:c.4879del	ENSP00000506336.1:p.Glu1627SerfsTer?
ENST00000680778.1:c.2590del	ENSP00000506033.1:p.Glu864SerfsTer?
ENST00000680924.1:c.*2393del	ENSP00000506031.1:n.*2393del
ENST00000681135.1:c.*2602del	ENSP00000506636.1:n.*2602del
ENST00000681298.1:n.1806del
ENST00000681454.1:c.*4229del	ENSP00000505763.1:n.*4229del
ENST00000277541.6:c.4993del	ENSP00000277541.6:p.Glu1665SerfsTer?
ENST00000494783.1:n.148del
NM_017617.3:c.4993del	NP_060087.3:p.Glu1665SerfsTer?
XM_011518717.1:c.4294del	XP_011517019.1:p.Glu1432SerfsTer?
NM_017617.5:c.4993del MANE Select	NP_060087.3:p.Glu1665SerfsTer?
XM_011518717.2:c.4270del	XP_011517019.2:p.Glu1424SerfsTer?