Canonical Allele Identifier: CA2324747743

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187348_15187350delinsCAA , CM000681.2:g.15187348_15187350delinsCAA	GRCh38
NC_000019.9:g.15298159_15298161delinsCAA , CM000681.1:g.15298159_15298161delinsCAA	GRCh37
NC_000019.8:g.15159159_15159161delinsCAA	NCBI36
NG_009819.1:g.18632_18634delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-12_1607-10delinsTTG MANE Select	ENSP00000263388.1:n.1607-12_1607-10delinsTTG
ENST00000263388.6:c.1607-12_1607-10delinsTTG	ENSP00000263388.1:n.1607-12_1607-10delinsTTG
ENST00000601011.1:c.1604-12_1604-10delinsTTG	ENSP00000473138.1:n.1604-12_1604-10delinsTTG
NM_000435.2:c.1607-12_1607-10delinsTTG	NP_000426.2:n.1607-12_1607-10delinsTTG
XM_005259924.3:c.1607-12_1607-10delinsTTG	XP_005259981.1:n.1607-12_1607-10delinsTTG
XM_005259924.4:c.1607-12_1607-10delinsTTG	XP_005259981.1:n.1607-12_1607-10delinsTTG
NM_000435.3:c.1607-12_1607-10delinsTTG MANE Select	NP_000426.2:n.1607-12_1607-10delinsTTG