Canonical Allele Identifier: CA2581974340

Gene: NOTCH3

Linked Data

• gnomAD v3: 19-15187469-A-AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
• gnomAD v4: 19-15187469-A-AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187471_15187472insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000681.2:g.15187471_15187472insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000019.9:g.15298282_15298283insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000681.1:g.15298282_15298283insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000019.8:g.15159282_15159283insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_009819.1:g.18512_18513insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000263388.1:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCC...
ENST00000263388.6:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000263388.1:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCC...
ENST00000601011.1:c.1604-132_1604-131insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000473138.1:n.1604-132_1604-131insCCCCCCCCCCCCCCCCCCCCC...
NM_000435.2:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_000426.2:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCCCCC...
XM_005259924.3:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_005259981.1:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCC...
XM_005259924.4:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_005259981.1:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCC...
NM_000435.3:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select	NP_000426.2:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCCCCCCCCCCC...