Canonical Allele Identifier: CA915945816

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136515576del , CM000671.2:g.136515576del	GRCh38
NC_000009.11:g.139410028del , CM000671.1:g.139410028del	GRCh37
NC_000009.10:g.138529849del	NCBI36
NG_007458.1:g.35211del

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.1810del MANE Select	NP_060087.3:p.Ile604SerfsTer27
ENST00000651671.1:c.1810del MANE Select	ENSP00000498587.1:p.Ile604SerfsTer27
NM_017617.3:c.1810del	NP_060087.3:p.Ile604SerfsTer27
ENST00000277541.6:c.1810del	ENSP00000277541.6:p.Ile604SerfsTer27
ENST00000679595.1:c.1810del	ENSP00000506241.1:p.Ile604SerfsTer27
ENST00000680133.1:c.1696del	ENSP00000505319.1:p.Ile566SerfsTer27
ENST00000680218.1:c.1810del	ENSP00000505339.1:p.Ile604SerfsTer27
ENST00000680668.1:c.1696del	ENSP00000506336.1:p.Ile566SerfsTer27
ENST00000680924.1:c.1810del	ENSP00000506031.1:p.Ile604SerfsTer27
ENST00000681135.1:c.1810del	ENSP00000506636.1:p.Ile604SerfsTer27
ENST00000681454.1:c.*1046del	ENSP00000505763.1:n.*1046del
XM_011518717.1:c.1111del	XP_011517019.1:p.Ile371SerfsTer27
XM_011518717.2:c.1087del	XP_011517019.2:p.Ile363SerfsTer27