Canonical Allele Identifier: CA2695211762

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517897_136517898insACAC , CM000671.2:g.136517897_136517898insACAC	GRCh38
NC_000009.11:g.139412349_139412350insACAC , CM000671.1:g.139412349_139412350insACAC	GRCh37
NC_000009.10:g.138532170_138532171insACAC	NCBI36
NG_007458.1:g.32890_32891insTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1296_1297insTGTG MANE Select	ENSP00000498587.1:p.Leu433CysfsTer?
ENST00000679595.1:c.1296_1297insTGTG	ENSP00000506241.1:p.Leu433CysfsTer?
ENST00000680133.1:c.1296_1297insTGTG	ENSP00000505319.1:p.Leu433CysfsTer?
ENST00000680218.1:c.1296_1297insTGTG	ENSP00000505339.1:p.Leu433CysfsTer?
ENST00000680668.1:c.1296_1297insTGTG	ENSP00000506336.1:p.Leu433CysfsTer?
ENST00000680924.1:c.1296_1297insTGTG	ENSP00000506031.1:p.Leu433CysfsTer?
ENST00000681135.1:c.1296_1297insTGTG	ENSP00000506636.1:p.Leu433CysfsTer?
ENST00000681454.1:c.*532_*533insTGTG	ENSP00000505763.1:n.*532_*533insTGTG
ENST00000277541.6:c.1296_1297insTGTG	ENSP00000277541.6:p.Leu433CysfsTer?
NM_017617.3:c.1296_1297insTGTG	NP_060087.3:p.Leu433CysfsTer?
XM_011518717.1:c.597_598insTGTG	XP_011517019.1:p.Leu200CysfsTer?
NM_017617.5:c.1296_1297insTGTG MANE Select	NP_060087.3:p.Leu433CysfsTer?
XM_011518717.2:c.573_574insTGTG	XP_011517019.2:p.Leu192CysfsTer?