Canonical Allele Identifier: CA16042771

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 372952
• ClinVar RCV Id: RCV000413535
• dbSNP Id: rs1057518096
• MyVariant Identifiers: chr9:g.139393353_139393355del (hg19) ; chr9:g.136498901_136498903del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498905_136498907del , CM000671.2:g.136498905_136498907del	GRCh38
NC_000009.11:g.139393357_139393359del , CM000671.1:g.139393357_139393359del	GRCh37
NC_000009.10:g.138513178_138513180del	NCBI36
NG_007458.1:g.51884_51886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6176_6178del MANE Select	ENSP00000498587.1:p.Asn2059del
ENST00000679595.1:c.*1216_*1218del	ENSP00000506241.1:n.*1216_*1218del
ENST00000679969.1:n.2772_2774del
ENST00000680003.1:n.2508_2510del
ENST00000680133.1:c.6062_6064del	ENSP00000505319.1:p.Asn2021del
ENST00000680218.1:c.6056_6058del	ENSP00000505339.1:p.Asn2019del
ENST00000680668.1:c.6062_6064del	ENSP00000506336.1:p.Asn2021del
ENST00000680778.1:c.3773_3775del	ENSP00000506033.1:p.Asn1258del
ENST00000680924.1:c.*3576_*3578del	ENSP00000506031.1:n.*3576_*3578del
ENST00000681135.1:c.*3785_*3787del	ENSP00000506636.1:n.*3785_*3787del
ENST00000681298.1:n.4281_4283del
ENST00000681454.1:c.*5412_*5414del	ENSP00000505763.1:n.*5412_*5414del
ENST00000277541.6:c.6176_6178del	ENSP00000277541.6:p.Asn2059del
NM_017617.3:c.6176_6178del	NP_060087.3:p.Asn2059del
XM_011518717.1:c.5477_5479del	XP_011517019.1:p.Asn1826del
NM_017617.5:c.6176_6178del MANE Select	NP_060087.3:p.Asn2059del
XM_011518717.2:c.5453_5455del	XP_011517019.2:p.Asn1818del