Canonical Allele Identifier: CA2583064795

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187472-C-CCCCCCCCCCCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187475_15187476insCCCCCCCCCCCCCCCCCCCCCTCCC , CM000681.2:g.15187475_15187476insCCCCCCCCCCCCCCCCCCCCCTCCC	GRCh38
NC_000019.9:g.15298286_15298287insCCCCCCCCCCCCCCCCCCCCCTCCC , CM000681.1:g.15298286_15298287insCCCCCCCCCCCCCCCCCCCCCTCCC	GRCh37
NC_000019.8:g.15159286_15159287insCCCCCCCCCCCCCCCCCCCCCTCCC	NCBI36
NG_009819.1:g.18509_18510insAGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000263388.1:n.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGG...
ENST00000263388.6:c.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000263388.1:n.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGG...
ENST00000601011.1:c.1604-135_1604-134insAGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000473138.1:n.1604-135_1604-134insAGGGGGGGGGGGGGGGGGGGG...
NM_000435.2:c.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGGG	NP_000426.2:n.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGGG
XM_005259924.3:c.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGGG	XP_005259981.1:n.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGG...
XM_005259924.4:c.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGGG	XP_005259981.1:n.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGG...
NM_000435.3:c.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000426.2:n.1607-135_1607-134insAGGGGGGGGGGGGGGGGGGGGGGGG