Canonical Allele Identifier: CA591367494

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1371987316
• gnomAD v2: 9-139412564-CCG-C
• gnomAD v4: 9-136518112-CCG-C
• MyVariant Identifiers: chr9:g.139412565_139412566del (hg19) ; chr9:g.136518113_136518114del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518114_136518115del , CM000671.2:g.136518114_136518115del	GRCh38
NC_000009.11:g.139412566_139412567del , CM000671.1:g.139412566_139412567del	GRCh37
NC_000009.10:g.138532387_138532388del	NCBI36
NG_007458.1:g.32673_32674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1255+23_1255+24del MANE Select	ENSP00000498587.1:n.1255+23_1255+24del
ENST00000679595.1:c.1255+23_1255+24del	ENSP00000506241.1:n.1255+23_1255+24del
ENST00000680133.1:c.1255+23_1255+24del	ENSP00000505319.1:n.1255+23_1255+24del
ENST00000680218.1:c.1255+23_1255+24del	ENSP00000505339.1:n.1255+23_1255+24del
ENST00000680668.1:c.1255+23_1255+24del	ENSP00000506336.1:n.1255+23_1255+24del
ENST00000680924.1:c.1255+23_1255+24del	ENSP00000506031.1:n.1255+23_1255+24del
ENST00000681135.1:c.1255+23_1255+24del	ENSP00000506636.1:n.1255+23_1255+24del
ENST00000681454.1:c.*491+23_*491+24del	ENSP00000505763.1:n.*491+23_*491+24del
ENST00000277541.6:c.1255+23_1255+24del	ENSP00000277541.6:n.1255+23_1255+24del
NM_017617.3:c.1255+23_1255+24del	NP_060087.3:n.1255+23_1255+24del
XM_011518717.1:c.556+23_556+24del	XP_011517019.1:n.556+23_556+24del
NM_017617.5:c.1255+23_1255+24del MANE Select	NP_060087.3:n.1255+23_1255+24del
XM_011518717.2:c.532+23_532+24del	XP_011517019.2:n.532+23_532+24del