Canonical Allele Identifier: CA2583064827

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187476-A-AACC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187476_15187477insACC , CM000681.2:g.15187476_15187477insACC	GRCh38
NC_000019.9:g.15298287_15298288insACC , CM000681.1:g.15298287_15298288insACC	GRCh37
NC_000019.8:g.15159287_15159288insACC	NCBI36
NG_009819.1:g.18505_18506insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-139_1607-138insGGT MANE Select	ENSP00000263388.1:n.1607-139_1607-138insGGT
ENST00000263388.6:c.1607-139_1607-138insGGT	ENSP00000263388.1:n.1607-139_1607-138insGGT
ENST00000601011.1:c.1604-139_1604-138insGGT	ENSP00000473138.1:n.1604-139_1604-138insGGT
NM_000435.2:c.1607-139_1607-138insGGT	NP_000426.2:n.1607-139_1607-138insGGT
XM_005259924.3:c.1607-139_1607-138insGGT	XP_005259981.1:n.1607-139_1607-138insGGT
XM_005259924.4:c.1607-139_1607-138insGGT	XP_005259981.1:n.1607-139_1607-138insGGT
NM_000435.3:c.1607-139_1607-138insGGT MANE Select	NP_000426.2:n.1607-139_1607-138insGGT