Canonical Allele Identifier: CA2583064680

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187457-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187458_15187459insGG , CM000681.2:g.15187458_15187459insGG	GRCh38
NC_000019.9:g.15298269_15298270insGG , CM000681.1:g.15298269_15298270insGG	GRCh37
NC_000019.8:g.15159269_15159270insGG	NCBI36
NG_009819.1:g.18524_18525insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-120_1607-119insCC MANE Select	ENSP00000263388.1:n.1607-120_1607-119insCC
ENST00000263388.6:c.1607-120_1607-119insCC	ENSP00000263388.1:n.1607-120_1607-119insCC
ENST00000601011.1:c.1604-120_1604-119insCC	ENSP00000473138.1:n.1604-120_1604-119insCC
NM_000435.2:c.1607-120_1607-119insCC	NP_000426.2:n.1607-120_1607-119insCC
XM_005259924.3:c.1607-120_1607-119insCC	XP_005259981.1:n.1607-120_1607-119insCC
XM_005259924.4:c.1607-120_1607-119insCC	XP_005259981.1:n.1607-120_1607-119insCC
NM_000435.3:c.1607-120_1607-119insCC MANE Select	NP_000426.2:n.1607-120_1607-119insCC