Canonical Allele Identifier: CA2324747810

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187457_15187459delinsCGA , CM000681.2:g.15187457_15187459delinsCGA	GRCh38
NC_000019.9:g.15298268_15298270delinsCGA , CM000681.1:g.15298268_15298270delinsCGA	GRCh37
NC_000019.8:g.15159268_15159270delinsCGA	NCBI36
NG_009819.1:g.18523_18525delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-121_1607-119delinsTCG MANE Select	ENSP00000263388.1:n.1607-121_1607-119delinsTCG
ENST00000263388.6:c.1607-121_1607-119delinsTCG	ENSP00000263388.1:n.1607-121_1607-119delinsTCG
ENST00000601011.1:c.1604-121_1604-119delinsTCG	ENSP00000473138.1:n.1604-121_1604-119delinsTCG
NM_000435.2:c.1607-121_1607-119delinsTCG	NP_000426.2:n.1607-121_1607-119delinsTCG
XM_005259924.3:c.1607-121_1607-119delinsTCG	XP_005259981.1:n.1607-121_1607-119delinsTCG
XM_005259924.4:c.1607-121_1607-119delinsTCG	XP_005259981.1:n.1607-121_1607-119delinsTCG
NM_000435.3:c.1607-121_1607-119delinsTCG MANE Select	NP_000426.2:n.1607-121_1607-119delinsTCG