Canonical Allele Identifier: CA783619449
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1463614749

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187335_15187336insGAA , CM000681.2:g.15187335_15187336insGAA GRCh38
NC_000019.9:g.15298146_15298147insGAA , CM000681.1:g.15298146_15298147insGAA GRCh37
NC_000019.8:g.15159146_15159147insGAA NCBI36
NG_009819.1:g.18648_18649insCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1611_1612insCTT MANE Select ENSP00000263388.1:p.Phe537_Glu538insLeu
ENST00000263388.6:c.1611_1612insCTT ENSP00000263388.1:p.Phe537_Glu538insLeu
ENST00000601011.1:c.1608_1609insCTT ENSP00000473138.1:p.Phe536_Glu537insLeu
NM_000435.2:c.1611_1612insCTT NP_000426.2:p.Phe537_Glu538insLeu
XM_005259924.3:c.1611_1612insCTT XP_005259981.1:p.Phe537_Glu538insLeu
XM_005259924.4:c.1611_1612insCTT XP_005259981.1:p.Phe537_Glu538insLeu
NM_000435.3:c.1611_1612insCTT MANE Select NP_000426.2:p.Phe537_Glu538insLeu