Canonical Allele Identifier: CA2583064808

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187475-C-CCCCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187475_15187476insCCCCCCCCCCCCCCCCCT , CM000681.2:g.15187475_15187476insCCCCCCCCCCCCCCCCCT	GRCh38
NC_000019.9:g.15298286_15298287insCCCCCCCCCCCCCCCCCT , CM000681.1:g.15298286_15298287insCCCCCCCCCCCCCCCCCT	GRCh37
NC_000019.8:g.15159286_15159287insCCCCCCCCCCCCCCCCCT	NCBI36
NG_009819.1:g.18506_18507insAGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-138_1607-137insAGGGGGGGGGGGGGGGGG MANE Select	ENSP00000263388.1:n.1607-138_1607-137insAGGGGGGGGGGGGGGGGG
ENST00000263388.6:c.1607-138_1607-137insAGGGGGGGGGGGGGGGGG	ENSP00000263388.1:n.1607-138_1607-137insAGGGGGGGGGGGGGGGGG
ENST00000601011.1:c.1604-138_1604-137insAGGGGGGGGGGGGGGGGG	ENSP00000473138.1:n.1604-138_1604-137insAGGGGGGGGGGGGGGGGG
NM_000435.2:c.1607-138_1607-137insAGGGGGGGGGGGGGGGGG	NP_000426.2:n.1607-138_1607-137insAGGGGGGGGGGGGGGGGG
XM_005259924.3:c.1607-138_1607-137insAGGGGGGGGGGGGGGGGG	XP_005259981.1:n.1607-138_1607-137insAGGGGGGGGGGGGGGGGG
XM_005259924.4:c.1607-138_1607-137insAGGGGGGGGGGGGGGGGG	XP_005259981.1:n.1607-138_1607-137insAGGGGGGGGGGGGGGGGG
NM_000435.3:c.1607-138_1607-137insAGGGGGGGGGGGGGGGGG MANE Select	NP_000426.2:n.1607-138_1607-137insAGGGGGGGGGGGGGGGGG