Canonical Allele Identifier: CA2583064713

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187471-G-GCCCCCCCCCCCCCCCCCCCCCCCCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187475_15187476insCCCCCCCCCCCCCCCCCCCCCTCCCCC , CM000681.2:g.15187475_15187476insCCCCCCCCCCCCCCCCCCCCCTCCCCC	GRCh38
NC_000019.9:g.15298286_15298287insCCCCCCCCCCCCCCCCCCCCCTCCCCC , CM000681.1:g.15298286_15298287insCCCCCCCCCCCCCCCCCCCCCTCCCCC	GRCh37
NC_000019.8:g.15159286_15159287insCCCCCCCCCCCCCCCCCCCCCTCCCCC	NCBI36
NG_009819.1:g.18510_18511insGAGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000263388.1:n.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGG...
ENST00000263388.6:c.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000263388.1:n.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGG...
ENST00000601011.1:c.1604-134_1604-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000473138.1:n.1604-134_1604-133insGAGGGGGGGGGGGGGGGGGGG...
NM_000435.2:c.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000426.2:n.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_005259924.3:c.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG	XP_005259981.1:n.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGG...
XM_005259924.4:c.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG	XP_005259981.1:n.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGG...
NM_000435.3:c.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000426.2:n.1607-134_1607-133insGAGGGGGGGGGGGGGGGGGGGGGGGGG...