Canonical Allele Identifier: CA2580080934

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2117177
• ClinVar RCV Id: RCV003027607

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518127dup , CM000671.2:g.136518127dup	GRCh38
NC_000009.11:g.139412579dup , CM000671.1:g.139412579dup	GRCh37
NC_000009.10:g.138532400dup	NCBI36
NG_007458.1:g.32660dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1255+10dup MANE Select	ENSP00000498587.1:n.1255+10dup
ENST00000679595.1:c.1255+10dup	ENSP00000506241.1:n.1255+10dup
ENST00000680133.1:c.1255+10dup	ENSP00000505319.1:n.1255+10dup
ENST00000680218.1:c.1255+10dup	ENSP00000505339.1:n.1255+10dup
ENST00000680668.1:c.1255+10dup	ENSP00000506336.1:n.1255+10dup
ENST00000680924.1:c.1255+10dup	ENSP00000506031.1:n.1255+10dup
ENST00000681135.1:c.1255+10dup	ENSP00000506636.1:n.1255+10dup
ENST00000681454.1:c.*491+10dup	ENSP00000505763.1:n.*491+10dup
ENST00000277541.6:c.1255+10dup	ENSP00000277541.6:n.1255+10dup
NM_017617.3:c.1255+10dup	NP_060087.3:n.1255+10dup
XM_011518717.1:c.556+10dup	XP_011517019.1:n.556+10dup
NM_017617.5:c.1255+10dup MANE Select	NP_060087.3:n.1255+10dup
XM_011518717.2:c.532+10dup	XP_011517019.2:n.532+10dup