Canonical Allele Identifier: CA2583064823

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187476-A-ACTTCCACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187477_15187478insTTCCACCCCCC , CM000681.2:g.15187477_15187478insTTCCACCCCCC	GRCh38
NC_000019.9:g.15298288_15298289insTTCCACCCCCC , CM000681.1:g.15298288_15298289insTTCCACCCCCC	GRCh37
NC_000019.8:g.15159288_15159289insTTCCACCCCCC	NCBI36
NG_009819.1:g.18505_18506insGGGGGTGGAAG

Transcript Alleles

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