Canonical Allele Identifier: CA1884232435

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842956114

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498924del , CM000671.2:g.136498924del	GRCh38
NC_000009.11:g.139393376del , CM000671.1:g.139393376del	GRCh37
NC_000009.10:g.138513197del	NCBI36
NG_007458.1:g.51863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6155del MANE Select	ENSP00000498587.1:p.Ala2052ValfsTer?
ENST00000679595.1:c.*1195del	ENSP00000506241.1:n.*1195del
ENST00000679969.1:n.2751del
ENST00000680003.1:n.2487del
ENST00000680133.1:c.6041del	ENSP00000505319.1:p.Ala2014ValfsTer?
ENST00000680218.1:c.6035del	ENSP00000505339.1:p.Ala2012ValfsTer?
ENST00000680668.1:c.6041del	ENSP00000506336.1:p.Ala2014ValfsTer?
ENST00000680778.1:c.3752del	ENSP00000506033.1:p.Ala1251ValfsTer?
ENST00000680924.1:c.*3555del	ENSP00000506031.1:n.*3555del
ENST00000681135.1:c.*3764del	ENSP00000506636.1:n.*3764del
ENST00000681298.1:n.4260del
ENST00000681454.1:c.*5391del	ENSP00000505763.1:n.*5391del
ENST00000277541.6:c.6155del	ENSP00000277541.6:p.Ala2052ValfsTer?
NM_017617.3:c.6155del	NP_060087.3:p.Ala2052ValfsTer?
XM_011518717.1:c.5456del	XP_011517019.1:p.Ala1819ValfsTer?
NM_017617.5:c.6155del MANE Select	NP_060087.3:p.Ala2052ValfsTer?
XM_011518717.2:c.5432del	XP_011517019.2:p.Ala1811ValfsTer?