Canonical Allele Identifier: CA2583064806

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187475-C-CCCCCCCCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187475_15187476insCCCCCCCCCCCCCCCCCCCCCT , CM000681.2:g.15187475_15187476insCCCCCCCCCCCCCCCCCCCCCT	GRCh38
NC_000019.9:g.15298286_15298287insCCCCCCCCCCCCCCCCCCCCCT , CM000681.1:g.15298286_15298287insCCCCCCCCCCCCCCCCCCCCCT	GRCh37
NC_000019.8:g.15159286_15159287insCCCCCCCCCCCCCCCCCCCCCT	NCBI36
NG_009819.1:g.18506_18507insAGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

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