Canonical Allele Identifier: CA2721108898

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336267

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504809del , CM000671.2:g.136504809del	GRCh38
NC_000009.11:g.139399261del , CM000671.1:g.139399261del	GRCh37
NC_000009.10:g.138519082del	NCBI36
NG_007458.1:g.45979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2690del
ENST00000651671.1:c.4883del MANE Select	ENSP00000498587.1:p.Lys1628SerfsTer21
ENST00000679595.1:c.4883del	ENSP00000506241.1:p.Lys1628SerfsTer21
ENST00000680133.1:c.4769del	ENSP00000505319.1:p.Lys1590SerfsTer21
ENST00000680218.1:c.4763del	ENSP00000505339.1:p.Lys1588SerfsTer21
ENST00000680668.1:c.4769del	ENSP00000506336.1:p.Lys1590SerfsTer21
ENST00000680778.1:c.2480del	ENSP00000506033.1:p.Lys827SerfsTer21
ENST00000680924.1:c.*2283del	ENSP00000506031.1:n.*2283del
ENST00000681135.1:c.*2492del	ENSP00000506636.1:n.*2492del
ENST00000681298.1:n.1696del
ENST00000681454.1:c.*4119del	ENSP00000505763.1:n.*4119del
ENST00000277541.6:c.4883del	ENSP00000277541.6:p.Lys1628SerfsTer21
ENST00000494783.1:n.38del
NM_017617.3:c.4883del	NP_060087.3:p.Lys1628SerfsTer21
XM_011518717.1:c.4184del	XP_011517019.1:p.Lys1395SerfsTer21
NM_017617.5:c.4883del MANE Select	NP_060087.3:p.Lys1628SerfsTer21
XM_011518717.2:c.4160del	XP_011517019.2:p.Lys1387SerfsTer21