Canonical Allele Identifier: CA506078746

Gene: NOTCH3

Linked Data

• COSMIC: COSM1180865 ; COSM1180866
• MyVariant Identifiers: chr19:g.15302611del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191805del , CM000681.2:g.15191805del	GRCh38
NC_000019.9:g.15302616del , CM000681.1:g.15302616del	GRCh37
NC_000019.8:g.15163616del	NCBI36
NG_009819.1:g.14182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.747del MANE Select	ENSP00000263388.1:p.Thr250HisfsTer?
ENST00000263388.6:c.747del	ENSP00000263388.1:p.Thr250HisfsTer?
ENST00000601011.1:c.744del	ENSP00000473138.1:p.Thr249HisfsTer?
NM_000435.2:c.747del	NP_000426.2:p.Thr250HisfsTer?
XM_005259924.3:c.747del	XP_005259981.1:p.Thr250HisfsTer?
XM_005259924.4:c.747del	XP_005259981.1:p.Thr250HisfsTer?
NM_000435.3:c.747del MANE Select	NP_000426.2:p.Thr250HisfsTer?