Canonical Allele Identifier: CA2695211763

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517901_136517903del , CM000671.2:g.136517901_136517903del	GRCh38
NC_000009.11:g.139412353_139412355del , CM000671.1:g.139412353_139412355del	GRCh37
NC_000009.10:g.138532174_138532176del	NCBI36
NG_007458.1:g.32886_32888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1292_1294del MANE Select	ENSP00000498587.1:p.Asn431del
ENST00000679595.1:c.1292_1294del	ENSP00000506241.1:p.Asn431del
ENST00000680133.1:c.1292_1294del	ENSP00000505319.1:p.Asn431del
ENST00000680218.1:c.1292_1294del	ENSP00000505339.1:p.Asn431del
ENST00000680668.1:c.1292_1294del	ENSP00000506336.1:p.Asn431del
ENST00000680924.1:c.1292_1294del	ENSP00000506031.1:p.Asn431del
ENST00000681135.1:c.1292_1294del	ENSP00000506636.1:p.Asn431del
ENST00000681454.1:c.*528_*530del	ENSP00000505763.1:n.*528_*530del
ENST00000277541.6:c.1292_1294del	ENSP00000277541.6:p.Asn431del
NM_017617.3:c.1292_1294del	NP_060087.3:p.Asn431del
XM_011518717.1:c.593_595del	XP_011517019.1:p.Asn198del
NM_017617.5:c.1292_1294del MANE Select	NP_060087.3:p.Asn431del
XM_011518717.2:c.569_571del	XP_011517019.2:p.Asn190del