Allele Registry

Canonical Allele Identifier: CA348408

Gene: NOTCH1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.136504952dupA

GRCh38 chr9:g.136504951_136504952insA

GRCh37 chr9:g.139399404dupA

GRCh37 chr9:g.139399403_139399404insA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000204161

ClinVar Variation:

219381

dbSNP:

864622061

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504952dup , CM000671.2:g.136504952dup	GRCh38
NC_000009.11:g.139399404dup , CM000671.1:g.139399404dup	GRCh37
NC_000009.10:g.138519225dup	NCBI36
NG_007458.1:g.45835dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2546dup
ENST00000651671.1:c.4739dup MANE Select	ENSP00000498587.1:p.Met1580IlefsTer30
ENST00000679595.1:c.4739dup	ENSP00000506241.1:p.Met1580IlefsTer30
ENST00000680133.1:c.4625dup	ENSP00000505319.1:p.Met1542IlefsTer30
ENST00000680218.1:c.4619dup	ENSP00000505339.1:p.Met1540IlefsTer30
ENST00000680668.1:c.4625dup	ENSP00000506336.1:p.Met1542IlefsTer30
ENST00000680778.1:c.2336dup	ENSP00000506033.1:p.Met779IlefsTer30
ENST00000680924.1:c.*2139dup	ENSP00000506031.1:n.*2139dup
ENST00000681135.1:c.*2348dup	ENSP00000506636.1:n.*2348dup
ENST00000681298.1:n.1552dup
ENST00000681454.1:c.*3975dup	ENSP00000505763.1:n.*3975dup
ENST00000277541.6:c.4739dup	ENSP00000277541.6:p.Met1580IlefsTer30
NM_017617.3:c.4739dup	NP_060087.3:p.Met1580IlefsTer30
XM_011518717.1:c.4040dup	XP_011517019.1:p.Met1347IlefsTer30
NM_017617.5:c.4739dup MANE Select	NP_060087.3:p.Met1580IlefsTer30
XM_011518717.2:c.4016dup	XP_011517019.2:p.Met1339IlefsTer30

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